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Sex Chromosome Aneuploidy

Q&A about defects in the structure or number of the X and Y chromosome. Examples include Turner syndrome and Klinefelter syndrome.

Other information about sex chromosome aneuploidy:

Genetics Education Center, University of Kansas

http://www.kumc.edu/gec/support/chromoso.html#chromxy

Subtopics

General Questions on this topic (3)    Klinefelter syndrome (56)    Miscellaneous/Unclear Diagnosis (6)    Mosaicism (7)    Triple X syndrome (39)    Turner syndrome (61)    XYY Syndrome (23)    No Sub-topic (1)    Showing 196 questions

Displaying: All questions - use the list above to filter results.
Question Date
Hello im a student in Spain and I am doing a research project on Klinefelter's syndrome and the psychological aspect of the syndrome. I have found case studies that have found Klinefelter's patients who have symptoms of Schizophrenia ( psychosis etc) but i haven't found the biological causes of them. Are there links between Klinefelter's and Schizophrenia? if so could you please reply with whatever information nthat you can contribute. View Answer
I was recently diagnosed with Turner's Syndrome. Do women with this abnormality have a higher risk for getting multiple sclerosis? View Answer
My son, now age 20 1/2, was diagnosed at age 16 3/4 after a karotype, with Klinefelter's syndrome. He is not mosaic. He is always tired and has many cavities. I have visited many websites but found inconclusive evidence and the geneticist also says that his dental problems and tiredness are not related to his Klinefelter's. He has been tested twice for thyroid and they are normal. He needs 10 hours or more of sleep per night. He can go with less but often sleeps 12 - 15 hours a night. He tires easily but likes to get out and do things. He says he is not depressed and seems happy enough though he tends to be a loner,is socially immature, not good at expressive communication, especially of feelings. His blood pressure is too high for age 20 and he is overweight (6'3" and 255 lbs size 42 waist pants). An online checklist of over 80 questions gives him all the markers for ADHD except he is not physically active--which is not part of ADHD necessarily , contray to popular belief (according to Dr. Mark Kutscher,author of Kids in the Syndrome Mix). I believe he may be ADHD. Will treating him with Ritalin help him with his tiredness and is the tiredness truly connected to the Klinefelter's? I have heard others with Klinefelters say they are tired but "the experts" say it is not connected with Klinefelters. They say the same about the dental problems (20 caries in one checkup and more since then!). Please tell me where else to turn for tiredness problems. Also, what are the real pros and cons of taking versus not taking depo-testosterone injections? He is taking it now every two weeks but it he feels no differently after doing so consistently for 3 months now. I know it isn't suppossed to heklp him feel less tired but is more for bone loss/gain. However, he is past the bone-formation age so is taking the injections really necessary...He didn't take them till age 18 and it was less frequernt and he missed many months. View Answer
What is the reason that Turner's and Klinefelter's syndromes can occur as a result of nondisjunction in either the sperm or the egg, but XYY can occur only as a result of nondisjunction in the sperm? View Answer
WHY does Triple X Syndrome occur? Is it just random, or from older parents? Or from the environment? I know it's in meiosis and stuff, but I want to know why. View Answer 2009-11-06
I have the diagnoses of 47,xxx (5) , and also 45,x (3). I am ovulatory...(as proven last week in a trans vaginal ultra sound) My question is.. My IVF doctor wants me to use donor eggs (which i cant afford) because of my diagnosis. But, from my understanding Turners is generally not passed from mother to child. Could you please help me out in this..i dont want them to just dismiss my eggs if they are okay. Also..could you please tell me what the numbers in () mean?... i.e. the (5) and (3). So, i guess my question is.. Will my 45,x affect my eggs? and could i have a child with 45,x if i use my eggs? Thanks for any help. View Answer 2009-10-07
My daughter 25 years of age. We hae not toldher of the xxx condition. She is very normal and smart in every way. She is getting married and I thought I should tell her. However, I also donot think she haws to know. What do you feel? View Answer 2009-10-07
I am a 25 years male who discovered I have Klinefelter syndrome. Is there any chance of me having kids in the future if I started to be treated with testosterone? View Answer 2009-08-26
Hello, I am a 36 year old woman with Triple X Syndrome AND Turners Mosiac. UGH, what joy! I have been through fertility treatments (thats how i discovered the Triple X and Turners). At the end of my fertility treatments my doctor said that i DID indeed ovulate. So does this mean that i CAN get pregnant on my own? Could you PLEASE give me some information from your personal standpoint on this? I have read through all of these questions and answers here and have read the links you have provided people. But i'd like your opinion on this, please. And thank you very much for any help. View Answer 2009-08-12
I have Klinefelter's Syndrome, I am 38 years old and have known about my condition for the past 9 years. I have the XXY chromosomes. Although I am infertile, I appear to be normal other than a lack of chest hair and facial hair ie. mustache/beard. My question is: Will my lower levels of testosterone affect my ability to build muscles as I have just joined a gym and am wanting to lose weight and build muscle? Thanks in advance for your help and advice. View Answer 2009-08-08
I have a son who is 11 years old and has mosaic kline felter 46XY ans 47XXY. Most information are on XXY and little information on mosaic. How can I obtain more information on my son's condition? How much does it differ with XXY. Some of the symptoms of XXY does exist in my son. Thank you. View Answer 2009-08-02
hi, i am 18 years old. I have very puffy nipples and a bit of what looks like breast tissue. I am 6 foot 3 and weigh 13.3 stone. I have been reading about klinefelters and it says that people have very long limbs which i seem to have. In my opinion i have kind of small testicles which are firm. I have reasonably broad strong shoulders and have never had speech or learning problems. I do have slight sheurmens disease. I have got some stubble on my face and also alot of pubic hair and also a snail trail. Am starting to develop chest hair and in my opinion i have a high sex drive. Could the long limbs and breast like chest be klinefelters? I am very worried. Thanks View Answer 2009-07-31
I recently found out my 15 month old baby girl has turner syndrome mosaic with y chromosome. I took her to the Urologist and he stated we need to remove her ovaries now due to the increased risk of her forming the gonadoblastoma tissue due to the y chromosome. I justed wanted to know if this is the most common treatment or do I have any other options?? What is the percentage of turner syndrome pt's with the y chromosome that have normal ovary functions?? I really appreciated your time and sharing your knowledge with me!! View Answer 2009-07-24
My husbands brother has the XYY chromosome defect. We are on our second pregnancy with another boy. Is there an increased chance that my husband could father boys with this defect? View Answer 2009-07-24
if a child is so affected by 47xyy can he qualify for SSI in Illinois. my son couldnt finish school and at 19 is at a 3rd grade level. he cant get or hold a job although he passed his drivers test and drives. what is the ruling on 47xyy View Answer 2009-07-24
I recently had an amniocentesis, which returned with an abnormal result. I am carrying a child with 47XXX, 46XX. The abnormal karyotype was in 15 of the 81 cells analysed and is therefore a mosaic form of the triple x syndrome. Does this mean that it would be fairly likely that the child will have none or only very mild features of the condition? Does the fact that the abnormal cell line is only present in 19% have any information value, how severe the syndrome is going to be? My husband and I would appreciate your expert opinion in this matter. View Answer 2009-06-18
I have a 18 month old son who was diagnosed by CVS testing as 47XYY 46XY Mosaic-out of the sampling of twenty cells, five were 47XYY--a relatively small percentage. He appears to be developing at a normal pace in all areas but language----He can say approximately 10 words(or variations of words) however he does not say them very often. He also seems to ignore me when I ask him to do a lot of tasks--he can do a few simple tasks(find Daddy,or find his bottle)-Is this normal behavior? Could he have attention deficit disorder?Also,should I seek help from a speech therapist? View Answer 2009-06-17
I am a NICU nurse and my daughter was just informed that her unborn infant has triple-x synd. Would you abort. this pregnancy? View Answer 2009-05-20
Hello, I am an occupational therapy student and recently I was involved in the assessment of a young boy whose psychology report noted he had a condition called Karatype XYY. I have to research the impact of this condition on the child's developement but I cannot seem to find any information on this exact spelling of the condition, I am assuming their has been a mistake in the psychology report type up as I have found information on XYY alone. Could you assist me with my query please and recommend any reliable sources of information suitable for professionals as a lot of the information I have found tends to be focused to parents. Thank you. View Answer 2009-05-05
I am writing a case study on a 4 year old boy who was diagnosed with Klinefelter's Syndrome. I have found that in most cases, this syndrome goes undetected until puberty. But this boy is non verbal, has just learned to walk and has many other physical and developmental challenges. Are these symptoms really associated with Klinefelters? or does he maybe have another disability? View Answer 2009-04-24
My 6 yr. old grandson has xyy. He also stopped breathing when he was 6 wks. old and we don't know how long without oxygen to the brain. He's been in special ed since he was 2. Lately he is showing signs of aggresive behaviour. He pushes, spits, hits and bites and seems to think it's funny. How can we disipline him? How can we nip this before it mushrooms? His parents are going through a divorce. Could he be acting out for lack of attention or is it more the xyy or both? Please, I keep him three days a week and love him and want so to help him. Thank you View Answer 2009-04-10
Is the Triple X Syndrome only a disorder that girls/women have, or can boys/men get it as well? View Answer 2009-03-31
how can person know that he is klinefelter syndrome at puberty or after without having sex with any female View Answer 2009-03-24
Are there any examples of genetic engineering or gene technology that can offer a hope for a cure for Klinefelter's Syndrome? View Answer 2009-03-23
I know a woman and her daughter who both have been diagnosed with Turner Syndrome. They both have the same karyotype which is (not sure how to technically write it) xx with part of the short arm of one x missing, and a translocation of the long arm of a y. What I'm wondering is how this occurrs. Wouldn't the mother have had to be conceived as xy for there to be a long arm of a y? How does someone end up with what is virtually two x's and some y material? Thanks, I hope that was clear.... View Answer 2009-03-20
My fiance has kleinfelter's syndrome. I am aware it would be very difficult for us to conceive a child, however, how likely is it for that child to have this disease as well? View Answer 2009-03-18
my granddaughter was born premature she cant swallow so has a feeding tube she now has a trake because her lungs are week she is now four months she has never cryed they say she has xxx chromeasome.will she ever lead a normal life?her hearing and vision are abmornal.please hlp with any information you on the xxx chromeasome View Answer 2009-03-14
Hello i have 75percent of ts and 25 percent of 1 extra cromersone i have all the signes of turner sydrome i have 3 girls i was tested when i was about 6 and got more tests when i was 35 i just want to know will i still have the same probblems as others like with my heart liver kidneys because im seeing a knew docter i cant seem to get answers i need to know thankyou View Answer 2009-03-03
If your mother smoked and was an alcoholic which I assume my mother was during her pregnancy with me, as she was many years after I was born-are you more likely to get Turners Syndrome? I am sure she also took medications ie valium too. View Answer 2009-03-02
What evidence is there that females with Triple X syndrome enter menopause in their mid- to late-twenties? View Answer 2009-02-26
I have a science report to do on Jacob's Syndrome and I had a hard time finding the answer to some of the questions. What kind of tests are available to find Jacob's Syndrome and what kinds of treatments can be done to make Jacob's Syndrome for manageable or give the affected person a longer life? View Answer 2009-02-21
I know that Turner Syndrome can occur as a result of mutations of the x chromosome. What types of anomomlies will occur if the x is mutated in a male karyotype? Is that compatible with life? Thank You View Answer 2009-02-20
I think I may have mosaic Turner's. How much is the test and does insurance pay for this? I'm asking cuz I have so many problems and Turners explains so much. My periods are normal & I am 5"2 but I have low set ears and low hairline, as child was diagnosed w/small Eustacian tubes, had hearing loss, strabysimus, am nearsighted, have scoliosis, shorter arms than other family members, have social problems. In college took lab technique class, we did our chromosomes--teacher said one of my chromsomes was cut off and we both thoguht it was a mistake but what if it wasn't? Worth checking??? View Answer 2009-02-20
My son (now 6 months old) was diagnosed in utero with klinefelters and was also born with a left sided congenital diaphragmatic hernia. None of his doctors have ever seen the two together. Im my research i have seen that CDH does appear quite often alng side of a chromosomal abnormality but it seems mostly like trisomy 13, 18, or 21. Is there any research or eveidence that this has happened before? Also is it necessesary to have myself and dad tested to see who it came from or can you get klinefelters without anyone as a carrier. what are the chances of my other kids having it? View Answer 2009-02-09
My daughter was born with XXX Syndrome. Since she turned about 10, she has been very sickly. She has asthma, has had her appendix out, has had cysts on her ovaries, chronic bowel syndrome, and some other minor problems. Is this due to the XXX? She was seeing a genetisist in Vermont, but hasn't seen him in a while. Anything will be of help. Thank you for your time. View Answer 2009-01-20
I have just met a man who stated that he is a 46 xx, xy mosaic gene karyotype (about a 60/40 xx to xy ratio/split) or a mosaic klinefelter variant. I haven't found much about this specific type. I would like to know what this "means" - I've been reading a variety of things online but they don't seem to fit him as he is short and has above average intelligence. View Answer 2009-01-12
Does Turner Syndrom affect a child's, and later an adult's emotional and social maturity? View Answer 2009-01-10
I am 32 and had Karyotyping done to see why I have had two miscarriages. I do have a healthy 2.5 year old daughter with no physical or mental problems. My results stated that I am 45 x. I do not fit any of the profiles listed in someone with 45 x. I am 5?6?, perfect hairline, no health problems, no webbed neck, no fertility problems. How can this be? I will be attending a genetic consult, but this is scaring me. I need answers now! I just don?t fit the bill. What does this mean for me expanding my family. How can I have a daughter who is perfect? Can I consider egg harvesting and take the ones that have both sex chromosomes and have those fertilized and implanted? View Answer 2008-12-22
Hi i am the mother of a man who has klinefelter's syndrome. we found out that he had this condition when he was 16 years old. the dr. wanted him to come in and have shots every month of testosterone but he refused to do it and i dont know why. he's now 27 years old and he is having a lot of trouble. his way of thinking is all messed up. he has very bad mood swings he try to fight me and other family members and is always in trouble with the law. he is also suicidel. is there anything that you can tell me that i might be able to do for him. right now we're not talking because he blames me for him being like this. he really needs help bad and i dont know what to do for him i reall need some answers please help! View Answer 2008-12-15
do you have a expierence of someone who has xyy syndrome also known as 47xyy syndrome? if you do please reply. also what would a genetic counselor tell parents who xyy syndrome or are carriers of the disorder about the chances of their children having the disorder? View Answer 2008-12-02
My brother who is older than me has been diagnosed recently with Klinefelter's syndrome he is infertile, my question is I have been married of over ten years now and being the next child born might there be a chance that I have an a chronosme abnormality as I have not been able to get pregnant. View Answer 2008-11-27
I am a student researching Jacob's syndrome. Could you tell me if males with Jacobs' Syndrome are more likely to have children with the condition than other males without the condition? Thanks View Answer 2008-11-20
I am 25 years old, and was diagnosed with Turner Syndrome at the age of 10. I am recently wanting to start a family. Is it impossible for a Turners patient to get pregnant with her own egg even with help from reproductive specialist? Also, have Turner women been able to carry their own child full term with out any abnormal complications? I recenltly spoke with a specialist, but also know in many cases there are possible exeptions. Thank you for your time. View Answer 2008-11-05
My daughter who is pregnant has been diagnosed as having triple X syndrome. Would this have any connection to a vulnerability to fragile X in the foetus? View Answer 2008-10-29
My son was diagnosed with Kleinfelter syndrome. He and his wife were trying to have a child. His doctor hqs said that if he goes through a procedure, through the testicles, it may help them to get pregnant. What are their chances for her to get pregnant if he goes through with this procedure? View Answer 2008-10-29
Is there an association betweem Turner Syndrome and deletion of the short arm of the third chromosome. View Answer 2008-10-28
Our 6 week old daughter was diagnosed with Turner's syndrome at birth. The pediatrician said she is a true single X. Is there an increased risk of future children having this or other genetic conditions? View Answer 2008-10-25
what is the life expectancy of a patient and/or female with Turner Syndrome? View Answer 2008-10-06
I am a 22 year old woman with mosaic turner's syndrome, and I have only had one menstrual cycle in my life. I was told by doctors that both my uterus and ovaries are extremely tiny and non-functioning. I know conceiving is very rare, but could you give me an idea of what my chances are of conceiving, and could IVF help me to conceive and what are some other options for me? View Answer 2008-09-27
I am 19 weeks pregnant with a turners syndrome little girl. My baby has a cystic hygroma that last measured at 16 weeks 21mm. I am going for another scan re: 20weeks. So far she seems to have a strong heart and no other abnormalities other than the general edema in hands and feet (and the hygroma) I have searched for statistics around miscarraige and still births relating to turners syndrome but cannot find the informtion that I am looking for.... I was told by my doctor that beacuse my baby has survived this long she has a good change of surviving the pregnancy... Is this true.... are turners syndrome babys more likley to miscarry before the 20 weeks or are they more likley to be still births (after 20 weeks) or is the change about equal. View Answer 2008-09-25
My 20 week fetus (male) is prenatally diagnosed as 45X, 47 XYY mosaicism. My husband and I met genetic councelor yesterday, but We still have hard time to figure out this condition due to mosaicism. Does this case apply Turner syndrome more or less, though he is a boy? Will he have a chance of heart problems which TS girls may have? Can we collect facts by researching 45X (Turner) and 47XYY separately, or should we target on strictly 45X, 47XYY? The resources of this case is so limited. How can we access the information of exact this case? View Answer 2008-09-06
In 1979, my daughter was born 6-weeks premature at 2 lbs. 4 oz. She had visible deformities - webbed digits and slanty eyes - and died a few hours after birth. No supportive treatment was given because the pediatricians agreed the deformities indicated that she was not viable. The geneticist diagnosed her with Trisomy X and said the syndrome was very rare and most babies were either aborted early or died at birth. Now I learn that this is not so. Is this all that was known about the syndrome 30 years ago? What additional chromosomal abnormalities might her appearance and trisomy x indicate? Thank you. View Answer 2008-09-05
I have a 16 y.o. daughter with 47xxx. My 23 y.o. son has just been told that he is sterile. In looking back, he has a lot of the characteristics of Klinefelter's syndrome. Knowing that I have one child with a chromosomal abnormality, and possibly a second, how likely is it that I have a chromosomal abnormality (47xxx) and passed this to my children? View Answer 2008-08-19
I?m concerned about my 5 year old daughter who is 38.75 inches tall (<3%), has ptosis, micrognathia, high arched palate, shortened 4th and 5th metacarpals, mild cubitus valgus, downslanting palpebral fissures, and somewhat widely-spaced nipples. Due to military relocations, we?ve seen 3 geneticists in the past 3 years and had many tests with no diagnosis. Two blood karyotypes (standard and expanded), a chromosome microarray analysis, and SHOX DNA test (to check for LWD which runs in my family) were all normal. A bone age x-ray showed a slightly delayed bone age. Endocrinology testing 2 yrs ago was normal. I?m convinced there?s a thread tying together my daughter?s dysmorphic features, rather than just bad luck. I?m still worried it may be Turner Syndrome. I?ve read that the 45X cell line may die out in the bone marrow and only remain in other tissues. If this is the case, would it be reasonable to request a skin biopsy to look for mosaicism, or is there other testing we can do? View Answer 2008-07-29
i would like to know more about klinefelter's syndrome. as i can see from the website, most of the symptoms fit with me. therefore i'm afraid i might be one of the unfortunate to have this disease. i'm 21 but my muscles are quite underdeveloped. i assumed this to happen because i'm not really active in sports during my teenage days. other than that, my facial hair is really scarce. my beard is hardly to grow as well as my moustache. then, my chest is also not so wide, not well built and i'm not sure about the enlargement of the breast tissue. other than physical symptoms, some phsycological symptoms also fit in me. i'm quite shy, not really a socialize person, and i'm not so good in talking to other people, having conversation/speech. are all these symptoms showing that i'm having klinefelter's disease? it's been haunting me lately. i don't want to be abnormal. i'm hoping to get some answers which can clear my doubts and get me out from this nightmare. thanks in advance. View Answer 2008-07-28
I have been searching for reasons why I still look so young and never fully developed physically. I am almost 28 years old and still look like I did when I was 13. I came across a few web pages about TS. Any advice you can give me would be greatly appreciated. View Answer 2008-07-23
My niece has Turners Syndrome. I was wondering if TS causes any behavior problems. My sister never has disciplined her 3 yr old and now that she has a new baby, she can't control her 3 yr old. She is now blaming the TS. She also has already told her daughter about sex and says her doctor told her that b/c of the hormone problems, that it's okay for her to "play" with herself. I'm really concerned about my niece. Is it really recommended and is the behavior thing true? I've done research and have found nothing to support what she says but she won't believe me. I'm concerned about her trying to get her daughter on medication, when the real problem is her not having any discipline. I'm also concerned because she knows too much for her age and has tried putting objects in places they don't belong because of what my sister has told her about sex. Can you please help? View Answer 2008-07-17
I am 21 years old with a healthy 2 year old Daughter. 2 weeks ago I had a DnC at 11 weeks due to the baby having turners syndrome. I just would like to know what are my chances of this happening again in the future. I would like another child but am scarred to try again when I am able to because I don't want to have to go through this again. View Answer 2008-07-09
I was diagnosed as having XXX chromosones but have no real idea how that effects me. I always thought I was of average or even above average intelligence. I am an avid reader and am very articulate (so I've been told). My question is related to my health of the past ten years. I have been diagnosed with 3 seperate kinds of cancer. I had breast cancer 10 years ago and 5 years ago was diagnosed with both uterine and fallopian cancers. I believe it is very unusual for a person to have 3 seperate cancers (so far) and wonder if any research has been done in this area. In what way does my xxx chromosomes impact my tendencies to develop cancer. I obviously think the two are related. Your answer will be appreciated. View Answer 2008-06-26
I have Klinefelter's syndrome and at the moment take testosterone replacement so as to make me more male. My question althougth I take this testosterone it does not make me feel like a male, I feel more like a female and by this i feel less stressed when i am wearing womans clothing and feel more of a whole person when wearing womans clothings. So is it possible that i am a girl trapped in a mans body an thougth they tell me that me cell is XXY and that i have an extra X could it be that i dont have an extra X but a extra Y and i should have been born a girl not a boy. View Answer 2008-06-24
I am a mosaic Turner syndrome female. I am 50% 45X and 50% 46XX on genetic analysis. I am trying to get pregnant and considering different infertility options. I have normal, regular menstrual cycle (started naturally at 10 years of age). I know that Turner's is not inherited, but what happens if one of my 45X cells gets fertilized instead of the 46X cell? Will that pregnancy go full term and result in a full Turner syndrome baby? Or does the pregnancy spontaneously abort? View Answer 2008-06-12
Dear whom it may concern, when i was 14 weeks pregnant i had an amnosesis through the stomach and found out i was pregnant with a turners syndrome baby, when my daughter was born, she had narrowing of the aeorta and had surgery that day, she is a mosaic turners syndrome baby and our doctors are telling us that her overies may turn cancerous, but at the moment there is no evedience of cancer just a satistic. and they are thinking of taking them out now rather than later, after talking to other women with mosaic turners syndrome that have had children normally. at the moment we are confused about the best thing to do to give our daughter the best chance of a normal life. and would appreciate and information or in- put that you could provide us with. thank you for time and any information you can provide. View Answer 2008-06-04
My question regards a girl with Turner Syndrome with an xo/xy karyotype, complete female anatomy internally as well as externally. She had a gonadectomy due to the 'y' chromosome and risk of gonadoblastoma. Upon viewing the cells during pathology following the gonadectomy it was determined that she did have a 'functioning' SRY gene, which was somewhat of a surprise since her phenotype was fully female with streak gonads bilaterally. I know that the adrenal gland assists in producing testosterone even in females, but would there be enough testosterone for virilization without testes? Does the existance of the SRY gene mean that testosterone can be produced even in the absence of testes? Obviously this particular girl's SRY gene was not properly functioning in some way during gestation, since she is not intersexed. And wouldn't the function remain as it was in utero? Thank You View Answer 2008-06-01
how do anemia and turners syndrome relate? or do they View Answer 2008-06-01
My son was diagnosed will an extra y during a screen for downs....our geneticist told us about what to expect and we started to prepare ourselves for what was to come. What we got was a beautiful little boy who hasn?t caused us an ounce of trouble...he is now 11 and we have not told him about his extra y (yet) He is completely not affected by his disorder... (At this point). I'm beginning to question whether he has an extra y at all. My question is this...is there any chance the geneticist goofed up? Should I have him retested? At what age will all this kick in?he is not tall at all?he has not started going thru puberty yet, will that make a difference? View Answer 2008-05-22
I would like to know if Turner Syndrome and/or Cystic Hygroma have any relation with the neural crest cells. I saw an article where Cystic Hygroma can be caused by environmental factors, can the same be said true for Turner Syndrome? View Answer 2008-05-21
Me and my friend are doing a project on Turner Syndrome. I have not been able to find any facts on if there are going to be any future treatments of TS. Can you help me? View Answer 2008-05-19
My daughter is 4 1/2 months old and was diagnosed as mildly hypotonic. In efforts to find the root of the hypotonia we saw a ped. neuro. and she ran a battery of tests. One of which came back that she has triple x syndrome. My neurologist has very little info and is recommending we see a geneticist. I have found very little info on the web and I was looking to find out if there is a connection between xxx and hypotonia. She is an exceptionally good and passive baby. She coos and gurgle, however has very little physical motivation. View Answer 2008-05-14
I am currently writing a research paper for my biomedical technology class and I am doing it on Turner's Syndrome. My brother was stillborn with it and everywhere that I search only states TS being in women. I was wondering why that was? View Answer 2008-05-09
My daughter is 19 and did not start her period by itself. She does get it with birth control pills, but we never tried seeing if she gets it without. Her FSH levels were fine and her doctor now wants her to get genetic testing done to rule out mosaic turners. She also had a complete cardiac workup with an echo. She is 5' and has fully developed (large) breasts. She just never started menstruating. They also did an MRI to check for a pituatary tumor, but that was negative. The birth control pills give her bad cramps and lately her hands have been swollen and she has developed acne, which she never had. Please advise if genetic testing is necessary. Thank you. View Answer 2008-05-05
Hi I was wondering my daughter was checked for another genetic abnormality at an earlier age, which came back negative. I think it was fragile X. I now am convinced she has triple X syndrome. My question is, would triple X automatically show up on a test for fragile X? View Answer 2008-04-30
Does having Turner's Syndrom make you more likely to get cancer or any other disease? View Answer 2008-04-27
In case of an earlier pregnancy with monosomy X, is there any study which shows whether the risk of monosomy X occurring in the next pregnancy is higher than for someone who has not had the condition before? View Answer 2008-04-18
I'ma student of Legal Psycology in the South of Brazil, and my class of genetics studies has to find infomations about the 47 xyy syndrome... I have got some texts and a booklet, but I need three more informations that till now I could not find here, which are: how and who discovered it, and when. All the other materials I've found in English and Portuguese are good, but these points are in fault. I'm glad fo your attention, and please, with your answer, send me your address or any other referral to attach on our work. View Answer 2008-04-12
I have identical twin boys with speech and learning difficulties. Their biological father told me he has XYY syndrome. Is there a chance that my boys inherited this condition? View Answer 2008-04-08
My 16 year old daughter was diagnosised with Mosiac Chromesomes (30% Turners, 20% Triple-X and 50% Normal)when I had a amnionentesis. She has learning disabilities, Behavioral problems, problems with her menstal cycles, social problems and other issues as well. She has been placed in detention facilities for physically fighting with a controlling father.She has been diagnosised with personality disorder, bipolar, major depression, ADHD, and Anxiety. She is having a very difficult time in the placement facility. My question to you: How is this placement helping her when her problems could be from her Mosaic Chromosomes?Can the Mosaic Chrosmosomes be her problem? What can I do to help her understand herself better as she will have outbursts and not know why and will be so sorry for it later?Where is there a clinic/hospital/doctor that specializes with this type of chromosomes? Please Help! Thank you View Answer 2008-04-07
We have just been alerted that we will be having a son who is 47,XXY. I have been reading about this condition and some of the physical characteristics that may occur during puberty. Does the fact that both parents are athletic and muscular come into play for development of our son regardless of the 47,XXY condition being present,or is that not even a factor in a situation such as this? View Answer 2008-04-02
-Could cells with an additional X chromsome be detected in normal males- in other words, is it possible that normal males could be carrying among their cells a mosiac of 44+xy and 44+xxy ? -Is finding 44+xxy cells an occasional event that could be considered normal- or in other words, is the finding of 44+xxy cells after amniocentesis diagnostic of Kinefelter syndrome? -is there a spectrum in the manifestations of Kilefelter syndrome? or is there variability of expression-so much so that some people with klinefelter syndrome can live anormal life and have kids? Thank you very much for your answer in advance View Answer 2008-03-13
How is it possible for a female with trisomy x to not pass on her extra x chromosome ? I understand that the extra x chromosome can occur randomly, but how can the trait not be passed on? View Answer 2008-03-13
My granddaughter has Turner Syndrome with a karyotype of 45x/46xy. She had a gonadectomy at the age of 7. At the time of surgery they did find, surprisingly since she has complete female phenotype, that her SRY gene was working at some level. She is now 10 years old and it looks like her upper lip is getting fuzz right next to the lip line. Is there any way that she could virilize with no gonads/testes/ovaries? I have heard that human growth hormone, which she does take, can cause more hair growth. Or is the lip fuzz a consequence of adrenal maturation, such as in body odor etc.Thank you. View Answer 2008-03-11
My daughter has Turner's syndrome.She is quite short at the moment and I would like advice on where to get treatment in Kenya.Earlier attempts at seeing doctors were not fruitful as I was adviced that growth treatments are not safe(tests were not done on her to confirm this). I really need help for her,any advice on how she can be treated are welcome.I am currently in Germany but will go back to Kenya end of this month-march. View Answer 2008-03-05
I HAVE A SISTER WITH TURNERS SYNDROME AND AM CURIOUS ON THE AVERAGE AGE OF SOME ONEE WITH THIS CONDITION AND WHAT USALLY CAUSES THERE DEATHS?????? View Answer 2008-02-20
I have a 6 year old daughter who was diagnosed with Triple X Syndrome a few years ago. She has numerous other issues however and a whole host of doctors have seen her. They all acknowledge that there is something very wrong but they are unable to tie it down and have pretty much thrown their hands up in despair. The latest therapist to interact with my daughter suspects Rett's Disorder. But her development is extremely atypical for either syndrome. Is it possible to have both syndromes? Is it also possible that the Rett's could be partially offset by the additional X chromosome she possesses? Or is this possibly a whole other syndrome which may not yet have been identified? Is there any research, testing, or treatment being done in this area? Thank you for any light you could shed on this topic. View Answer 2008-02-13
I can identify with a lot of the symptoms but there are also symptoms that are at complete variance. For example: I enjoy aggressive sports such as shooting and fencing which is inconsistent with Kleinfelter sydrome. I also have a penis which is above average size [though shrunk due to age, has always been commented on by female partners for its extraordinary length]. My testicles were also 'normal size' and 'normal sensitivity' upto the age of around mid 30's when I noticed them getting smaller and less sensitive to impact and squeezing. I have also always enjoyed bedroom games which involve an element of testicular compression. My question therefore is [or questions are]: can Kleinfelter Sydrome [or symptoms similar] be acquired or induced? Why was my testicles and penis 'normal and above' size and sensitivity upto the age of around mid 30's? I would be very grateful for your reply View Answer 2008-01-26
I am a turner patient with 45X chromosomes but I get my periods normally like any other girl i.e without any treatment Can I conceive in future? Pls reply as early as possible View Answer 2008-01-25
My wife just got diagnosed with XXX syndrome after a second miscarriage. I want to know what is the likelihood of this syndrome being carried on to our child. Also how likely is this to cause further miscarriage. Thank-you. View Answer 2008-01-24
I work for a Genetic Study and we have found a case of Turner's syndrome. Problem: we are having difficulty determining the correct nomenclature for this pt. She has an interstitial deletion on a long arm of the 2nd X chromosome. Can you direct us to a resource to help with this? We have seen this written as 46,XXq and as 46,XX del (Xq). What is correct? There are also other possible labels. View Answer 2008-01-18
I'm researching triple-x and find it listed in official literature as a "syndrome" with references to "treatment of symptoms" and developmental delays, learning disability, etc. However, I have also been advised that it is not a syndrome, it does not have symptoms, and there is no expression in the children with this anomoly. So: 1) which is correct? 2) is there debate in the genetics profession? 3) why are there support groups online if there is no expression? 4) are there truly no links to developmental delays, learning disabilities, or other symptoms-- or is statistical significance a factor? Thanks. View Answer 2008-01-17
Hello - I did a keryotype in your clinic last wednesday. I wanted to find out weather I have Klinefelter syndrome or it's mosaic variants. I forgot to ask the counselor about how long is it going to take for the results to be ready. Would you please tell me how much time it is going to take? TX View Answer 2008-01-16
Hey were working on a project in science and I need to know where the name Turner's syndrome comes from. View Answer 2008-01-15
Hello, I have just read about the XXY syndrome (Klinefelter's Syndrome) and I think I might have it. I am 14 years old and have been experiencing the symptoms such as small testicles and speech impediments...can you please help me figure this out?? I have permission from my parents...they would also like some information concerning this condition View Answer 2008-01-12
I am sure I have klienfelter Syndrome or at least a small case of it I was wonder if anything can be done as a adult to help with condition. I am already in my late thirties and learned about the condition until recently but differently have a few of the signs of it. View Answer 2008-01-12
My husband and his ex had a girl who is Turner syndrome. How can I know if I get pregnant that my baby girl won't get Turner syndrome? View Answer 2008-01-10
My daughter was diagnosed with mosaic Turners Syndrome in 2005. She is now 8 and has been under the care of an endocrinologist and has seen all the specialists to rule out any of the prevalent medical conditions in girls with Turners Syndrome.We have not had genetic counseling or furthe gentic evaluation. Do you recommend this? If so, why? How would the process work and how do we go about starting it? Is it covered by insurance? Thank you for taking the time to answer these questions! View Answer 2008-01-06
CAN A TRIPLE X SYNDROME GET PREGNANT?? View Answer 2007-12-25
Hi I have been diagnosed with hypogonadism. I have low LH hormone , low testosterone. I can become fertile by injection. I don't have pituitary tumor.my endocrinologist Dr said that I probably don't have klinefelter syndrome because my testicles are not abnormal in size ,but he doesn't know why my testosterone level is low. I am taller than average and have eunichodial stature.I had gynecomastia before puberty,and I am younger looking and acting than actual age.Do you think it is a good idea that I take a genetic test and see if I have xxy, or mosaic xy/xxy syndrome? View Answer 2007-12-24
My brother in law was recently diagnosed with celiac disease. He was told this could have caused turner syndrome in his daughter. Is this possible? View Answer 2007-12-22
i have TS but i have my period... can i get pregnant? View Answer 2007-12-14
Is spondylolisthesis caused by having klinefelter and taking testostrone cause problems with early onset of spondylolistesis could you answer asp thank you View Answer 2007-12-06
Is trisomy x a chromosomal mutation? View Answer 2007-12-01
I am a 34yr. old male and I was diagnosed with Klinefelters Syndrome about 18 months ago. I wanted to know more about Klinefelters syndrome, especially about my lowering sex drive. I have been married for 11 years, and we already know we cannot have kids. But, I dont get sexually aroused as much as I use to and my wife doesn't understand it. Please help! View Answer 2007-11-28
I was told many years ago i have triple x syndrome with premature ovarian failure, but i would like to get a copy of my exact genetic results, how can i do this? How would i go about getting genetic testing done again? So i could get a copy of the exact results? thank you for your help View Answer 2007-11-26
would the diagnosis of Turner syndrome in a single cell mean that every cell of the body contained 45 chromosomes? View Answer 2007-11-22
I am the parent of a 3 yr old with XYY, my son seems normal with the exception of his ability to control his emotions sometimes. What resources are out there to help me identify/diagnose when hes just acting out or he cant help it because of the XYY? View Answer 2007-11-20
My son, age 27 was diagnoised with Klinefelter's Syndrome 3 yrs. ago when having a physical. He has been untreated until he developed symtons of extreme fatique and shaking periodically - family physician suggested thyroid problems. Went to an endraconologist and test showed thyroid was "failing" --no treatment, wait until it "completely dies" (also osteoporosis - no treatment). Starting 6 mo later he begins having "spells" of extreme fatigue then 6 mo later, under normal conditions, his chest felt pressured, his left arm went numb, disoriented, and hands drew inward (like a heart attack or stroke). He's been through test with a cardiologist and all is normal. Finally after all this the End. gave him testosterone patches. (The patches are causing extreme itching and irratibility.) My question is would Klenefelter cause the symtoms of a heart attack and do you think he is getting the right treatment? At only 27 I feel his capacity of living is going backward and not forward. View Answer 2007-11-16
If a father has klinefelter's sydrome what is the chances that he will get a child with this syndrome? View Answer 2007-11-15
My question I have is about 1 year ago I had a lump or mass removed from one of my testicals and now its back and I dont know if its something to worry about or if it's cause of the hormone therapy? I also I have noticed that the other teste that was a undescented and has been surgically lowered has majorly decreased in size within the last year. Is that part of having Klinfelters Syndrome or should I see my doctor? Reason why I am asking you instead of seeing my doctor is that I always get told that I am worrying about nothing and making something out of nothing. When examing myself my left testical looks like there is two together instead of just one being there and that I do have a bit of throbbing pain in that testes? I would appreciate your advise on what I should do and any of your comments on this matter!! Thank you and I look forward to your respond. View Answer 2007-11-15
My daughter has Turner Syndrome. And her Dr. put her on growth shots since she was 6 years old now she is 17 and then got on the pills to control her periods? Can she get pregrant? on top of her heart problems? Thank you View Answer 2007-10-19
Bonjour je fais actuellement un travail sur les trisomies sexuelles et j'aimerai savoir pour quelles raisons , les personne atteint de ces trisomies ( par exemple trisomie XXX) peuvent avoir des d?ficiences mentales. Je ne comprend pas qu'un chromoqome sexuel de plus puisse alt?rer l'intelligence . J'aimerai aussi savoir si il n'y a que l'?ge de la m?re qui augmente les risques de trisomies sexuels ou bien si plusieurs facter ( ext?rieur ou autres) entrent aussi en jeu. Je vous remercie par avance de votre r?ponse. View Answer 2007-10-13
I have recently been supporting a client with Triple X (of which I know very little but am learning fast!) who has a serious weight issue and I would like to know if people with Triple X motabolise food and burn energy at the same rate as someone unafected by this condition?I have tried looking for information on the net but have found very little about Triple X and dietary requirements.Thank you View Answer 2007-10-10
During a routine dating ultrasound at 14 weeks pregnancy our baby was diagnosed with a cystic hygroma and we were reffered to a gentic councillor. A subsuquent ultrasound was done a week later that showed the cystic hygoma may have grown and that there is also an accumulation of some fluid in the babies chest. An amniyosentisis has just been completed and the doctor has informed us that the baby has 45x/46xy mosacism, with a higher concertration of 46xy chromosomes. The Doctor has told us this could result in a child being born with Turner Sydrome, a child being born that is intersex, or a normal male child. What is the likelyhood of each of these outcomes, and what additional test can we have done and what additional questions can we ask. Our next ultrasound and appointement is in one week, so any advice you can provide is appreciated! View Answer 2007-09-21
Below is a quote by you in answer to a posted question. "At the time of conception or in the period very soon afterwards, when the fertilized egg is dividing to form new cells in the body, a mistake can occur in which one X chromosome is lost, leaving 45 chromosomes. This is called Turner syndrome and is written as 45,X." My questioin is this, my granddaughter has Turner Syndrome and her karyotype is 45x/46xy. Am I right in assuming that she was concieved with a 46xy karyotype and during mitosis there was a mistake where the 'y' chromosome was dropped, thereby resulting in the mosaic karyotype? It is so uncommon for a TS girl to be mosaic 45x/46xy, that it's difficult for me to learn about it. Also, can non-disjunction occur during mitosis? Or is the dropping of a chromosome called something else? I tried to find literature describing the method of deletion of chromosomes, but was not very successful. Thank you for your response. View Answer 2007-09-17
PLEASE INFORM ABOUT THE FOLLOWING CONDITION. I AM PREGNANT, THE GENETICIST TOLD THE CHILD WILL BE A GIRL WITH MOSAIC TURNER SYNDROME 45X[10] AND 46XX[5]. WHAT DO THE NUMBERS [10] AND [5] MEAN? IS IT A SEVERE CONDITION? WHAT ARE THE CHANCES THE RESULTS OF THE AMNIOCENTECIS MAY BE WRONG? CAN I REPEAT THE AMNIOCENTECIS? THANK YOU View Answer 2007-09-16
Is there a non-DNA test for Kleinfelter's syndrome? I am a moderator for a gender identity web group the question was asked. View Answer 2007-09-05
I have been told, from the results of my amnio, that my daughter has Triple X. I've been trying to read anything about this subject, though there is not much out there. I am trying to be fully knowledgeable about this subject in order to make a decision on keeping or terminating this pregnancy. Can you give me the facts about these children. You hear that alot of people have this and don't even know it. Obviously you cannot tell me exactly the extent my child has, but is there some kind of percentage that most childen have. We know they have speech and motorskills problems, math and other learning disabilities. But are they mentally retarded, look different from other children, etc? We are an older couple (in mid 40's) with three other girls (all normal) and we are looking at this childs future since we are not young and won't be around forever to take care of her. Our other children will be self sufficient and we are possitive they will have no problem going out into the world and supporting themselves. We are just worrying about this new child. View Answer 2007-08-24
My husband and I are considering having children but I have concerns about his family genetic history. His olderst sister has Turner Syndrome and is also autistic. Do I have a chance of producing a child with a similar genetic disorder? View Answer 2007-08-24
When a male is found to be XYY or XYYY, is it possible for the multiple Y chromosomes to be different? In the case for genetic Y profiles, would it be possible for a man to have two sons with differing Y signatures? Has any research been conducted on the occurence of male chimerism? ie a father whose biological son is shown to have a different Y signature from the father. View Answer 2007-08-24
after someone suggested that I might have klinefelter syndrome it all makes sense. I have more than normal chest fat for a male, I needed speech therapy to get rid of a lisp when I was a kid. I accumulate fat at wierd regions in my body and I'm taller than average...also taller than my other family members. Anyway, how do I get tested to see if I have this for sure? View Answer 2007-08-16
Do parents of a child with Triple X run an increased risk of having another child with the same karyotype? View Answer 2007-08-15
I have been recently being diagnosed with having XXY cells in my blood. I had gone to a Urologist because of azoospermia and he had me do the genetic tests which showed that I had Klinefelter syndrome.I never had learning disabilities, in fact I was a Class topper. I was never good at sports but not completely hopeless either.I had long legs & short trunk as a teenager but could make it into proportion through working out. I had what I believe was normal sex drive till my early twenties. I was shy and misfit through my life till my twenties and then I learned to fit in. I have no Erectile Disfunction. I have very less body hair and I need to shave only once a week. I have little or no sexual desire but I feel the urge to Masturbate quite often(which I dont understand in connection with the lack of desire). I find my wife attractive but I do not have sex drive, yet I need to masturbate. I dont get it. Now I have zero sex drive, azoospermia, a wife who thinks I have a psychological problem because I had what I thought was a normal teenage life and am using the Klinefelter as a crutch for being lazy about sex. The problem is I am not sure myself anymore, though from long back I remember that sex is not something you get lazy about. What I need to know is this, does testosterone help if you were depressed to start with. Should I be doing counselling along with the testosterone treatment to bring my life back on track. I had been through two years of marital discord and a wife who thought I have lost interest in her so soon after marriage. She blamed herself and then me for my psychological makeup. I am asking this question as much for her as for me as there is someting I dont understand. Any comments would be helpful. View Answer 2007-08-01
Ihave Klinfelter,and Ihave sever immature arrest of my sperms Ican have ababy ?and free from this syndrome? if this possible give me real examples please. thanks View Answer 2007-08-01
I live in Bangalore, India. We are trying to get pregnant. After suffering a miscarriage (the condition was identified as Blighted Ovum), we underwent a genetic analysis. I was diagnoised as having an extra X chromosome in one of my karyotypes. Recently, I underwent an IVF, for the first time. It failed too. The result was again a blighted ovum condition. Is the extra X chromosome in a single karyotype preventing me from conceiving? Is there any gene therapy available to remedy the said condition? View Answer 2007-07-26
my son was born with a 45x/47xyy chromosomes. I had an amniocentesis done but decided to go on with the pregnancy even though doctors told me that it is very rare and they have no idea what will he be or whatever medical problems he may have. Because of the 47xyy they said he may be taller than normal kids but can't exactly say because of it's combination with 45x. He is 3 years old now and the only problem we have so far is his short stature. He's been healthy eversince he was born. He has 2 testicles and his sperm count is normal for his age. For years now i've been searching for other chromosome disorder similar to his but haven't seen any. Would you know of other cases ? Im worried about his height cause he's only on the 2% for the height percentile for boys and comparing his case with somebody might help us decide whether or not to go on with growth hormones injection when he turns 4. Thank you. View Answer 2007-07-25
I was reading about Turner's Syndrome ,which I have . I noticed it said that patients with Turner's have a higher chance of developing diabetes . My dad who recently passed away was a diabetic , no one else in the family has ever been diagnosed as a diabetic. Is there a chance that the chromosome which he gave to me was the one that resulted in my having Turner's ? I know that my chances of being a diabetic at some point are higher because of him being diabetic and also when I was pregnant with my twin girls , I developed gestational diabetes .I didn't know until reading some of the information that I was at a increased chance for high blood pressure . In fact I have been diagnosed with , I just assumed it was inherited from my parents. Does high cholesterol have any thing to do with Turner's? View Answer 2007-07-21
I am a 35 yr old female with TS. I found out about this when I was about 16-17 yrs old and it was something that was hard to grasp because it ment that I would never be able to concieve on my own and the price for invitro is huge. I wanted to know is there any assistance for someone in my situation to become a mother and birth a child of my own. I know there is nothing wrong with adoption, there is a history of it in my family but having just one of my own would mean the world to me. View Answer 2007-07-18
After various treatments for our infertility, we found out today that my husband has Klinefelter syndrome. We live in Kuwait, making finding a geneticist who will work with us very difficult, if not impossible. The gynocologist here told us that we should be leery of trying egg harvesting and IVF, because we have a much greater chance of passing on Klinefelter syndrome and many other complications to our baby. He mentioned immune disorders, and other negative possibilities. Are these real possibilities? We also asked about the projected expense and pain involved, but the gynocologist couldn't give us any answers. Could you help us with these questions? Also, could you recommend a geneticist here in Kuwait? View Answer 2007-07-10
I'm a mosaic Turner's woman (35 yrs. old), still menstrating. Due to the possible complications of pregnancy (if I would even be able to achieve this), we are considering adoption and surrogacy. I am planning on getting tested by a rep. endo. Dr. to see if my eggs are viable. What are the chances if they are, and we implant them in a surrogate with my husband's sperm, that the child would also have mosiac or any form of Turner's? View Answer 2007-07-03
I am a 62 year old woman with TS. I have no present heart or kidney complications. I am about 20 pounds overweight and have high cholesterol numbers (LDl 207) (total 330). I have just started Zetia. What is the approximate life span of a woman with TS. I am getting good medical care. View Answer 2007-07-01
i think i might have klinefelters syndrome: my testicles are under size, my penis is small, i have too big mamary glands and too big hips...i am 19 and would like to know if i do have the xxy syndrome View Answer 2007-05-17
I am a 26 yrs old married male. We were unable to concieve after 2 yrs and later on found that, I dont have any sperms in semen. Tests furthur revealed that I have Very HIGH levels of FSH and LH hormone, and testosteronone was just in the range (Minimul level). Physical examination showed that the size of my testis is below average. I have scarce facial and body hair. My question is, is it Klinefelter syndrome, and if yes is there any treatment available for it so that I can become fertile. Also I would like to know if there is a confirm test for this condition. View Answer 2007-05-07
Hi,My daughter was diagnosed Turner Sydrome, but I am a bit confused about the genetic's results (and haven't had much support on that). It states that in the two celular lines identified one had 90% with 45 chromossomes with only one X, therefore being 45,x (thus being Turner Syndrome). In the second line it showed 47 chromossomes with one extra X, therefore being 47,xxx (thus being Tryple X syndrom).[I hope the translation of the terms is correct]. Does it mean, by doing the maths, in the grand total she has what is necessary? Do they compensate each other? Or one makes the other one worse? View Answer 2007-05-05
I am 19 weeks pregnant and just told that my daughter has triple x syndrome but it is not in all of her cells. Can you tell me what that means and does it mean that her developmental areas will not be as severe where the cells are 100% affected? I'm not sure why the doctor threw that bit of infornmation in there. View Answer 2007-05-02
I am hoping someone out there can help with this predicament...I have a very close friend in her forties whom i have been very close with for many years...I love her..she's great and has always been very helpful with me and my children...Years back i was missing $20 from my wallet...after asking her to watch my purse in a clothing department..i confronted her with this and admitted to taking it from my wallet...a few months ago my daughters wallet went missing from her purse...and never been found...its happened once again this past weekend...both times she was here and as much as i hate the thought...all the pieces just seem to fall into place...both times she's had opportunity....I hate to accuse her...and i will not...but i just cant understand this...things go missing when she is here and then she seems to be in a hurry to leave showing some anxiousness...please help me with this matter..i dont know if this would be a symptom of turner syndrome...im hoping you can help me....thankyou View Answer 2007-05-01
Can u send me information about Moc Turnersyndrome. I was diagnoed with Turnersyndrome about 3 months after I was born. They told my parents then that I was not a full Turner. I have all kinds of information about Turners but not Moc turner. Thanks in advance. View Answer 2007-04-29
(I might have this condition) I'm a male, 50 yo. and I was researching Gynecomastia. I've had this condition all my life. My father has always had it also. Not medical diagnosis just observaton. He also has never had large muscles. very thin. Through my research I came upon Klinefelters syndrome. I fit quite a few of the indicators, I am 73.5" tall, arms spread, fingertip to fingertip 75". I've always had light facial hair, no beards for me!! Thinner when younger, well coordinated, could develop some muscle mass for only a short period of time. Miss a week and it's gone. Never have felt I fit in with the guys. I'm sure some women I've known thought I was gay but I am not attracted to men. I enjoy the company of women more in social situations. More friend than lover oriented but did get married and fathered 3 children. Overall though, as far as sex is concerned I've never been the type to just go pick up women for casual sex. I really don't think I have the syndrome but possibly the mosaic where only some cells have the extra X. I have been thinking about getting tested. My insurance might not cover it. Is it expensive?? Thank You. View Answer 2007-04-23
My daughter is 20 wks pregnant with her second child. It has been dionosed with Cystic Hygroma and it has developed into hydrops. The baby has numerous heart defects and kidneys defects. According to the Amniocentesis the baby may live for another 2-4 weeks. She, the baby, also has Turners Syndrome. My daughter has shown an interest in giving the baby to medical science so that maybe it can help others in the future. We would like to know what steps to take in order to do this but we have no idea on where to even begin this process. Thank you for any suggestions you may have. View Answer 2007-04-20
Does Klinefelture's Syndrome shorten life span? View Answer 2007-04-18
My husband has most of the symtoms for Klinefelter's syndrome. It has taken me years to figure out why he has the problems he has. We went to a uriologist back in 1988 to see why I couldn't get pregnant by him. I have two children by my first husband. The Doctor tested him, and said he had no sperm. Not one. He told us both that my husband was infertile. I did a little research, and I truly believe he has this syndrome. He has very small testicles, speech impairment, and has a hard time trying to get a point across. His social skills are very poor and he is shy. He is now (49) years old. What kind of specialist do you suggest for someone this age? He also went to the 11th grade and still cannot read or write correctly. I am concerned about him. Please give me any advice you can. View Answer 2007-04-11
Please help us,my husband has the klinefelter syndrome, he's about 50years of age now and we've been trying to have a baby but nothing is working.Does this syndrome means we will never be able to get pregnant and if the answer is No, how or what can we do to at least have a child? View Answer 2007-04-03
Well I'm alittle overwhelmed to say the least trying to understand all this but here is my situation..and question..I just found out my grandfather had an extra x chromosome along with diabetes and acute myelodysplasia leukemia..also in the family is various rere disorders such as hashimotos's , cml, porphyria, in aunts and mother...also in my cousin is shwachman's diamond syndrome and my son has congenital adrenal hyperplasia..i have diabetes, endometriosis, and polycystic ovarian syndrome...,what i want to know bacically is 1. could myself and my children inherited the extra x chromosome or disorders related to my grandfather having this extra chromosome and 2. is it possible that these "rare" conditions could be somehow linked by the extra x chromosome ....any information would be greatly appreciated..p.s is there conditions associated with these genetic issuse that can stay dorment of inactive for all or part of ones life? my daughter is frequently not well and i'm sure these is something 'we havent found yet but i'm not sure if this could be affecting here without us knowing it yet.....so my daughter would be the great-grand daughter of (my granfather) with the extra x chromosome....thanks again...:) View Answer 2007-03-30
hello i am a 23 year old male with Klinefelter Syndrome diagnosed about 4 years ago, i recently started taking testogel a daily dose of testosterone, 1 sachet a day. i was recently involved a girl in a sexual relationship, which has subsequently be discontinued due to distance but who has emailed me recently to tell me that she is pregnant and that it is mine. i am interested to know if this was possible as i understood from my endocronoligist that it was unlikely that i would be able to father children??????? tomorrow i am due to go for sperm count to satisfy myself on this subject and to help answer this question i was wondering do you have any other information on this topic????? thanks in advance for any information sent to me View Answer 2007-03-13
I'm a ninth grader at my local highschool. I am currently doing genetic disorder project in my Honors Biology class. The disorder I chose was Turner's Sydrome. I was wondering if woman were to have a baby at an older age, if it were to increase the probability of having a bay with TS. View Answer 2007-03-11
ARE TRIPLE X MOSAICS WITH GREATER NUMBER OF XX CELLS TALL AND UNDERWEIGHT LIKE THE TRIPLE X MOSAICS WITH GREATER NUMBER OF XXX CELLS ? View Answer 2007-03-07
We are a married couple that went to LSU-Shreveport with infertility issues. A testosterone level was done at the ER with a result of 90. He was put on AndroGel & sent to the Urology clinic. LH, FSH, & Prolactin levels were drawn as well as a karotype/genotype. The results were: 47 XXY Klinefelter's syndrome. We are devistated at the fact that we are not likely to have children. To make matters worse, we have no health insurance. We have appointments with the one geneticist in LA in a month or so. What are some issues that we will be facing? Will we have kids with the aide of IVF? What caused this? What is the mosaic kind of klinefelter's? View Answer 2007-03-03
Good evening! I am a doctor but not a geneticist.I have a question:what are the simtoms for Turner's syndrome X-chromosome mosaicism ?Thank you very much.! View Answer 2007-02-14
I am 15 years old and my penis is small and if i had a physical would the doctor tell me that i had klinefelters disease? View Answer 2007-02-09
My brother in law passed away at the age of 45. He had Klinefelters Syndrome. When people hear of his passing they have made the comment that Klinefelters Syndrome persons have a limited lifespan. We were never aware of this nor made aware of it from any of the doctors. What are the late in life complications of Klinefelter's and what is the average lifespan? View Answer 2007-01-24
Daughter was just diagnosed via amnio with triple x syndrome. What is the difference in language and motor skills difficulties with those who are mosaic vs. 100% triple x? Also, are behavioral problems and emotional instability more common in girls with complete triple x? Thank you! View Answer 2007-01-01
My husband has XYY syndrome, discovered after tests for infertility. He has recently been diagnosed with a mediastinal tumour of unknown aetiology (awaiting surgery to find out) and I wondered if there was any connection between this and his abnormal chromosome pattern. View Answer 2006-12-28
I need information if exist any relation betwen Klinefelter Syndrome and epilepsy. View Answer 2006-12-24
I had one miscarriage in 2004 prior to our healthy daughter being born in 2005. I have had two miscarriages in the past 5 months. No testing was done on the first two miscarriages. I had a D&C with the third miscarriage and the specimen was karyotyped showing Trisomy 3. Because of the three miscarriages and I will be 36 yrs old this year, my obstetrician sent me to a reproductive endocrinologist and we had numerous tests done including karyotyping of me and my husband. The results of my karyotpe was 46,XX/47,XXX mosaic with 90% of my cell normal and 10% 47XXX. Everything else tested normal including the karyotyping for my husband. I understand that trisomy is commonly found in miscarriages. Our concerns are the results of my karyotyping and the fact that I have had three miscarriages. My question is what is the risk of passing on a chromosomal abnormality to a future baby based on the results my karyotyping. Our options are to try to get pregnant again on our own and go through prenatal testing down the road if we are successful, or IVF with PGD. Any information would be helpful with our thought process. View Answer 2006-11-30
I have got the syndrome of Klineferter 47xxy, I found out on my age of 15 years old. I had hard life as a teenager.I would like to ask you if that syndrome effect my sexuality. The reason that i ask that questin is that i do not fill anything about females, but i fill a lot for males.Also that klineferter sydrome is means that any cell of my dna has got xxy chromosome? Thank you in advance for your time.Also I am 34 years old.And after having an IQ-test the resolt is 156 IQ. Sorry about my english writting is not the best. View Answer 2006-11-16
My granddaughter has been diagnosed with Turner Syndrome. Her karyotype is 45x/46xy. I believe her phenotype to karyotype, is highly unusual due to the fact that she has normal female anatomy. Complete vagina, uterus, fallopian tubes etc. (with the exception of immature ovaries which were removed) but her SRY gene was found to be functioning. The doctors were completely expecting to find it non-functioning. I have two questions: What are the probabilities of such a case? And I'm not even sure how to phrase the next question, but if a mosaic TS girl has a y gene, then did the sperm donate a y gene at conception? And is it the y gene that was 'dropped', to give her the 45xo(dropped y) part of her karyotype? I assume that a karyotype with any y at all had to start with a y at conception. The embryo can't just pick up a random y chromosome, right? View Answer 2006-11-13
Hi- I am a 31 year old woman with mosaic Turner's Syndrome. In about 2 years I would like to get pregnant but am not sure what exactly my chances are of carrying a baby to term or concieving at all. I have not had extensive fertlity tests except for a check of the hormone indicating early menopause which was negative. I have not had any hormone replacement treatments but have had and continue to have a normal menstral cycle and natural development of secondary sexual characteristics, if later than average. Just from this information can you give me any idea of my chances (a percentage would be good if possible) of concieving and carrying a healthy baby to term preferably without the use of IVF or any fertility drugs?Thanks. View Answer 2006-11-11
What is the normal dose of testosterone for someone with kleinfelters. My son gets 1cc once a month, this seems like a very low dosage to me. Can we up his dosage, he is 20 years old and doesn't seem to be responding to the low dose we are giving him. View Answer 2006-11-08
I have an 18 year old student that has Klinefelter Syndrome. He has shown aggression to females. Is this part of this syndrome? What intervetions can help? Where can I find info on this part of the syndrome? I have found that they may have behavior disorders but not the specifics. View Answer 2006-10-28
I am dating someone with klinefelter's syndrome and have done alot of research on the subject to better understand him, but i can never seem to find out anything about the way his condition can effect our sexual life. i know about not being able to have children. what i'm talking about is there the chance since he does have the extra x chromosome that he may also be attracted to men as well as women. i was hoping you could answer that question and maybe also tell me where i can find out more answers other than the usual that every site has posted. View Answer 2006-10-24
My daughter was diagnosed via amnio to have Trisomy X. She is now 8 and very tall for her age. She certainly seems to have behavioural problems. Mostly a Jeckyl and Hyde personality. When I ask her about her outbursts, she says she doesn't know why she does it. Is this her just being naughty or all part and parcel of Triple X Syndrome. How should I deal with this? Thanks. View Answer 2006-10-21
I am an individual considering adopting a child whose mother has XXX syddrome. Obviously, she cannot pass this specific condition on to her male son, but I was wondering what is the likelyhood of her passing on a similar condition to him, possibly Klinefelter's? View Answer 2006-10-18
I am the wife of a patient with Kleinfelter's Syndrome. We have been married for over four years, and are interested in starting a family. We have obtained different types of advice from a variety of doctors and are confused as to what we should do. Because his sperm count is low, we are considering artificial insemination. Can my husband's syndrome be passed down to our children? Could our children become carriers? What advice would you give to this couple desperate for children? View Answer 2006-09-14
My sister inlaw was going through an early childhood class and they where talking about the xyy syndrom. She instantly thought of me. I was intrested in the subject and did some looking in to it. Alot of it sounded like me when I was growing up. My question should I find out if I do and how? View Answer 2006-08-23
Regarding XXY. Is this condition considered male only because it is most convient to medical system? View Answer 2006-08-11
If a child is mosaic Turner's with XO/XY karyotype, what is the current recommendations for evaluation of gonadal tissue? View Answer 2006-07-25
What percentage of children with Turner?s syndrome have growth hormone deficiency, and when is the ideal time to start treatment? View Answer 2006-07-25
Where is the nearest expert for turner syndrome located? What genetic testing is available? Are there any current research studies available about turner syndrome? View Answer 2006-07-24
My service user has klinefelter syndrome.Are mood swings,depression and hypochondria classic symptoms of klinefelter syndrome? View Answer 2006-07-19
My son has 47XYY. I have done a lot of research by reading books, internet and talking to parents and the hospitals. But there is still a lot of questions to be answered. What are the true symptoms of XYY? Some say just being tall, acne and behaviour problems. Some say having symptoms of the Autistic Spectrum. It is a very confusing chromosome disorder. View Answer 2006-07-01
Hello im a student and im doing a project about Turners Syndrome. Could you please tell me what are some social Ramifications for those affected with Turners Disease and What questions are researchers still trying to answer about Turners Syndrome? View Answer 2006-06-29
I have a child that was diagnosed with triosomy X during my pregnancy from amniotic fluid. She's now 8 yrs old. Of the list of symptoms I've read about, my child only displays 1 symptom, that being developmentally delayed with language. Her height is normal, ie. not tall which seems to be the reported "consistent" symptom and she displays no facial dysmorphic abnormalities......in fact, she's truely a beauty. Do you think it's worthwhile to re-karyotype her? I sometimes wonder if she truely has it. View Answer 2006-05-27
I was tested about 3-4 years ago do to having 2 miscarriages in a row. The doctor sent us to genetic testing for me and my husband and found that I carry 3 x chromosomes and my husband carries the normal xy. What are the chances that we will have a boy if we tried to have more children. We have one girl. We cannot afford having Klinefelter's syndrome. This scares us to have more children. But if we could guarantee we'd have a girl then we may have more. Will I carry this to my girl and so on? What problems could arise with this? View Answer 2006-05-24
Is there any link between a father with Klinefelter's syndrome and his son having Cystic Fibrosis? View Answer 2006-05-05
what are some causes and symptoms of the klineflter syndrome View Answer 2006-05-05
I suspect my five year old son may have 47,XYY syndrome. Is this condition dangerous to his future? Should I have him tested? If so, what is the average cost for such test? Thank you for your time and I look forward to hearing from you. View Answer 2006-05-02
How were people with Turner's Syndrome treated in the past, before it was well-understood? Are there any famous people who have this disorder? View Answer 2006-04-21
I have 46 xy, 47xxy, 48 xxxy chromosomes or Klinefelters. I have a question if other men with my medical condition have had un-explained swollen testicles.My Doctor since me to a surgren thinking I had a hernia. The Surgeon order a CT Scan but nothing show wrong. He order a Ultra Sound of the scrotum and it came back with maybe a low level of epidimtics. I've been on three antibiotics for four month. He opeated and found no hernia. He did remove a fatty mass or tumor on the nerve nut it didn't solve the orginal problem reported.I went to one urologist who wanted to remove testicles. A second urologist is puzzled to what's causing this.I do have addtional pain in my left theigh and left knee.Has this been reported by anyone else? Can you direct me to who might be able to answer my questions. I do have an Endo appointment schedule in June. Thank you. View Answer 2006-04-20
Is there some sort of tratment for XYY syndrome? If so, what does it include? View Answer 2006-04-13
As a male, I was wondering if there could be a genetic conditon that involves difficulty with verbal communication. anxiety, and emotional problems. I seem to be able to communicate more proficiently through writing. I've heard of 40,XYY and wonder how this could be diagnosed. I've taken different medications for social anxiety disorder without much success and still have much difficulty communicating verbally which causes much stress and inferiority complex. Is there any type of genetic test to verify a problem? thank you or is it just that I'm not trying hard enough! View Answer 2006-04-05
My 30 year old son has been diagnosed with Klinfelters syndrome, possible cause parents? I wonder whether my daughters might also have an extra x chromosone and whether it might account for one daughters hormone/ectopic pregnancy problems. Is the condition likeley to reoccur in future generations? I have also read that males with the extra Y may be more viloent, my son has suffered depressions, self harm and violent outbusts, would the testosterone treatment help to balance these problems as well? View Answer 2006-03-27
I am a probation officer working with an individual with XYY chromosome disorder. He has several mental health issues and has had several out of home placements. Lots of suicidal thoughts/ideations as well as acting out sexually however he is a victim of sexual abuse. How does the XYY disorder impact sexuality, behavior and mental health issues. He also appears to be lower functioning. Any information/recommendations would be helpful. View Answer 2006-03-21
hi i think i may have xxy syndrome but my testicle size is normal does that mean i do not have such a condition View Answer 2006-03-21
I am a 54 yrs of age. Approximately 10 yrs ago I was diagnosed with Klinefelter's Syndrome. I was told only 1 out of every 5 of my cells have the additional X chromosome, therefore. I literally have a 20% case of this syndrome. I inject 200 mg of Depo-Testosterone every 2 weeks because 4-5 yrs ago my testicles atrophied, got small and painful. I had a bilateral Orchiectomy and need total testosterone replacement. Now to my question, can minimal bone loss (bone loss not uncommon among Klinefelter's patients) be painful. My family doctor said I might develop a "mild ache" but I get days where my bones hurt bad enough I could just scream. Can bone loss from Klinefelter's Syndrome be very painful.? My doctor has ruled out arthritis and the other major painful diseases. View Answer 2006-03-13
Are individuals who have Klinefelter's Syndrome more prone to have breast cancer then other males? View Answer 2006-03-09
where can i find current research on Klinefelter syndrome and Triple X Syndrome on the internet View Answer 2006-03-08
What is the life expectancy of some one with Jacobs Syndrome (47, XYY) View Answer 2006-03-07
My son is 16 and has xyy he is in hospital at the moment with D V T is it conected to xyy? View Answer 2006-03-06
31 years ago at the birth of my daughter we were told that a study they did revealed triple x chromosones. We were told that it could cause problems with her menstration and possibly have a hard time conceiving. She had no problem with menstration and became pregnant quickly. Now 30 weeks into her pregnancy her jewish panel rediscovered the triple x chromosomes. I am a mess because I forgot about it when she had no problems. She and her husband have been advised to go to a genetic doctor and have another sonogram. She has developed normally but was diagnosed with ADD. She has a Masters in Ed and happily married. Can you give me some insight how this could effect the baby??? At this time we do not know the sex but her husband does. My daughter wants it to be a surprise. View Answer 2006-03-04
what is the lifespan of a person with triple x? View Answer 2006-02-28
What is the lifespan of a person with XXX and XYY Syndrome? Also, can XXX and XYY Syndrome be prevented? View Answer 2006-02-22
Hi, I'm a 20 years old girl. I'm living in Belgium. I've the TripleX Syndrome. I heard that in USA, Denmark, Norway, Netherlands, there are many doctors who helps a child with this problem. Here in Belgium it's otherwise. My doctor told my mom (on my birth) that I had the syndrome, but he didn't say what the consequences are. Now I'm searching for help. View Answer 2006-02-14
Is Turner Syndrome inherited? My Brother -in -Law has a daughter who was diagnosed with Turner Syndrome about a year ago. The reason I ask is that his mother and father are related. Their mothers were sisters. Could this cause Turners Sydrome if they both have a recessive gene? View Answer 2006-02-14
Exactly how does a xyy chromosomal mutation occur? I know that it involves nom-disjunction of the sex chromosome but how does a xy get together with a y? View Answer 2006-02-08
Dear Sir, We have son 9 years old and his kromozome is. 45x ( % 35 ) 47 XYY ( % 65 ) Out wiev is like male. and he has one testis . And it works as normal men. Please inform us do you have experience about this kromozome. View Answer 2006-02-07
What kind of symptoms does someone with klinefelter syndrome have? View Answer 2006-02-07
How is triple x syndrome diagnosed? We are foster parents and are wondering what made the doctors suspect this syndrome at birth? View Answer 2006-02-02
Hello, Can you give me a summary or links online that have brief summaries of the biotechnologies being used to treat Trisomy X (Tripple X syndrome) Thankyou View Answer 2006-01-31
Is there any link between low hemoglobin and Tuner Syndrome or poor iron absorption and Turner Syndrome? We have had 3 reports of this kind of problem in our support group lately. View Answer 2006-01-27

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