Genetic Fact Sheets
The Emory Department of Human Genetics provides this copyrighted information for educational purposes only and should not be used as a substitute for information from a physician. Questions about this material should be discussed with your physician or a genetic counselor.

Carrier Testing

• Ashkenazi Jewish Comprehensive Carrier Screening
• Carrier Screening for Recessive Diseases
• Cystic Fibrosis Carrier Testing
• Cystic Fibrosis and PolyT/TG Tracts

Family History Factors

• Autoimmune Disorders
• Congenital Heart Defects and 22q11.2 Microdeletion
• Consanguinity
• Family History of Alzheimer Disease
• Family History of Behavioral Disorders
• Family History of Learning Disabilities and/or Mental Retardation
• Family History of Mental Illness
• Multifactorial Health Conditions
• Seizure Disorders

Fragile X

• Fragile X Overview
• The Fragile X Premutation: A Cause for Premature Ovarian Failure

General Genetics

• The Genetics of Blood Type

Lysosomal Storage Disease Center

• Enzyme Replacement Therapy for Fabry Disease
• Fabry Disease and Kidney Function
• Fabry Disease and Psychological Issues
• Fabry Disease: A Guide for the Newly Diagnosed
• Women and Fabry Disease
• Pompe Disease: What You Need to Know

Prenatal Diagnosis

• Abnormal First Trimester Screen Results
• Abnormal Maternal Serum Screening for Down Syndrome
• Abnormal Maternal Serum Screening for Open Neural Tube Defect
• Abnormal Maternal Serum Screening for Trisomy 18
• Amniocentesis
• Chorionic Villus Sampling (CVS)
• Chromosome Analysis: What it is and what it tells you
• Cystic Hygroma
• First and Second Trimester Screening Tests
• Preimplantation Genetic Screening
• Reproductive Genetic Counseling
• Second Trimester Maternal Serum Screening (AFP, hCG, UE3, DIA)
• Ultrasound

Reproductive Factors

• Environmental Exposures During Pregnancy
• Folic Acid
• General Population Risk for Birth Defects
• HELLP, AFLP and FAODs
• In vitro fertilization (IVF) & Birth Defect Risks
• Maternal Age Risks
• Paternal Age Risks
• Recurrent Pregnancy Loss
• Reproductive Options for Carriers of Recessive Diseases and Chromosome Rearrangements
• Seizures and Pregnancy

Newsletters
Take the Genetic Challenge


Websites
Please note: we do not control or endorse the information presented on these Web sites. They are listed for informational purposes only.

• 22q Deletion Syndrome
  • 22q Southeastern Regional Center of Excellence
  • 22q Support Group Brochure
• Autism
  • http://www.cdc.gov/ncbddd/dd/ddautism.htm
  • http://www.exploringautism.org/
  • http://www.autism-society.org/
  •  http://www.autismspeaks.org/
  • http://sfari.org/
    
• Biochemical Genetic Laboratory Services
• Birth Defects
  • http://www.marchofdimes.com/professionals/681_1206.asp
  • http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
• Cancer & Cancer Genetics
  • http://www.acor.org/
  • http://www.cancer.gov/cancerinformation
  • http://cancer.med.upenn.edu/
  • http://www.cancer.org/
  • http://www.ccalliance.org/
  • http://www.cdc.gov/ncbddd/dd/ddautism.htm
  • http://cis.nci.nih.gov/news/new.html#factsheets
  • http://www.colorectal-cancer.net/
  • http://www.dana-farber.org/can/cancer/
  • http://epi.grants.cancer.gov/CGN/
  • http://www.facingourrisk.org/
  • http://www.komen.org/intradoc-cgi/idc_cgi_isapi.dll?IdcService=SS_GET_PAGE&nodeId=298
  • http://www.nccn.org/
  • http://www.oncology.com/plwc/Home/1,1743,,00.html
  • http://www.ovarian.org/
  • http://www.peoplelivingwithcancer.org/plwc/Home/1,1743,,00.html
  • http://press2.nci.nih.gov/sciencebehind/cancer/cancer00.htm
• Centers for Disease Control & Prevention (CDC)
• Children's Health from A-Z
• Chromosome Disorders
  • http://www.chromodisorder.org/
  • http://www.rarechromo.org/
  • Trisomy 18, 13, & Related Disorders
  • http://members.aol.com/chrominfo/geninfo.htm
• Clinical Trials
  • http://clinicaltrials.gov/ct/gui/c/a2b/screen/SimpleSearch?JServSessionIdzon
• Deafness
• Down Syndrome
  • http://www.ndss.org/
  • http://www.ds-health.com/
  • http://www.downsyndrome.com/
  • http://www.nas.com/downsyn/holland.html
• Duarte and Classic Galactosemia
• http://gagalt.webs.com
  
• Education in Genetics
  • http://genetics.faseb.org/genetics/careers.htm
  • http://ghr.nlm.nih.gov/ghr/page/Home;jsessionid=913B29C4DE632291750668BF81CBD88A
• Emory University MEDWEB
• European Directory of DNA Diagnostic Laboratories
• Eye Color Calculator
• Fatty Oxidation Disorder Support Group
• Fragile X
  • http://www.fraxa.org/
  • http://www.fragilex.org/
• Genetic Conditions
  • Ask Noah
  • Genes & Disease
  • Genetic Disorder Information on the Web
  • Medline Plus - English
  • Medline Plus - Spanish
  • http://www.yourgenesyourhealth.org/
• Genetic Laws (State) & Legislative Activity
  • http://www.dnapolicy.org/index.jhtml;$535Z3BQAABFDCCQBAT3RVQQ
  • http://www.genome.gov/PolicyEthics/LegDatabase/pubsearch.cfm?CFID=3972342&CFTOKEN=15496403
  • http://www.nichd.nih.gov/publications/pubs.cfm
• Genetic Organizations, Education, & Societies
  • http://www.aap.org/visit/cmte18.htm
  • The American Journal of Human Genetics
  • The American Society of Human Genetics
  • The American College of Medical Genetics
  • The American Board of Medical Genetics
  • Coalition of State Genetics Coordinators
  • Genetics Education Counseling Program
  • The National Society of Genetic Counselors
  • Southeastern Regional Genetics Group (SERGG)
• Genetic Resources on the Web (GROW)
• Genetic Testing
• Genetics Education
  • Genetics Education Center
  • Genetics Resource Center
  • Genetics Science Education (K-12)
  • Kids Genetics
  • Understanding Genetic Conditions
  • Patient Brochures from PACNORGG
  • Pieces of Science
  • National Coalition for Health Professional Education in Genetics
• Genomics
  • Genome Database
  • http://www.cdc.gov/genomics/update/current.htm
  • http://www.doegenomes.org/
• Glossaries of Genetic Terms
  • http://www.genetests.org/servlet/access?qry=ALLTERMS&db=genestar&fcn=term&gtreport2=true&id=8888891&key=a8L5o4pA5jgDV
  • http://www.nhgri.nih.gov/10002096
  • Spanish glossary
• Health Information
  • http://www.mercksource.com/pp/us/cns/cns_home.jsp
  • http://www.vh.org/
  • http://www.nlm.nih.gov/medlineplus/geneticdisorders.html
  • http://www.ama-assn.org/ama/pub/category/3158.html
• Heart Problems
  • http://www.childrensheartinstitute.org/educate/eduhome.htm
• Hematology Resources
• Human Genome Project
  • Human Genome Epidemiology Fact Sheets (HUGE)
  • National Human Genome Research Institute
• Huntington Disease
  • http://www.hdfoundation.org/
  • http://www.hdsa.org/
• Infertility Information & Support
• Jewish Genetic Diseases
• Lysosomal Storage Disease Information
• March of Dimes
• Mitochondrial Diseases
• Muscular Dystrophy Association Disease Brochures
• National Digestive Diseases Clearing House
• National Library of Medicine/National Institutes of Health
• National Newborn Screening & Genetic Resource Center
• Neural Tube Defects
• Neurological Diseases
  • http://www.childneurologysociety.org/
  • http://www.neurocast.com/
• Online Directory of Genetic Resources (Genetic Alliance)
• Patient-Centered Guides
• Perinatal Data Center (March of Dimes)
• Phenylketonuria
  • www.listserv.emory.edu/Archives/pku-support-l.html
• Rare Diseases
  • http://www.rarediseases.org/
  • rarediseases.info.nih.gov/
  • National Institute of Child Health & Human Development
• Single Gene Defects
  • OnLine Mendelian Inheritance in Man
• Support Groups
  • http://www.mostgene.org/support/index.html
  • http://www.geneticalliance.org/
• Teratology
• Thalassemia Center
• Undergraduate/Graduate Programs
  • http://www.sciencenet.emory.edu/

Listservs

• The Fragile X Listserv
  
  In cooperation with the Fraxa Research Foundation, Dr. Stephen Warren and the Department of Human Genetics at Emory University School of Medicine maintain and administer this virtual support and information network for parents, families, educators and medical professionals dealing with fragile X syndrome. The Listserv operates as an e-mail exchange where you can post and/or read questions/comments and their replies or reply directly yourself.
  
  
  To join the listserv, send an e-mail message to LISTSERV@LISTSERV.CC.EMORY.EDU with the following command in the body of your e-mail message: SUBSCRIBE FRAGILEX-L
  
  
  To leave or unsubscribe, send an e-mail to the same address with the following command in the body of your e-mail message: SIGNOFF FRAGILEX-L
  
  
  Since this is an active discussion group, you may find that too many messages are filling your inbox. You can choose the DIGEST option to send you one batch message each day, with all individual listserv messages included. Send mail to the above address with the following command in the body of your e-mail message: SET FRAGILEX-L DIGEST
  
  
  
• PNO-METAB-L: Listserv for Registered Metabolic Dietitians
  
  PNO-METAB-L was created under the auspices of grant money allocated by the Southeastern Regional Genetics Group (SERGG), with the intent of facilitating communication between metabolic nutritionists in the hope of fostering professional development as well as improving delivery of nutrition care to the inborn errors of metabolism patient population. To sign up, please complete the PNO Listserv Registration Form.