Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21. This genetic disorder, which varies in severity, causes lifelong intellectual disability and developmental delays, and in some people it causes health problems.
Down syndrome is the most common genetic chromosomal disorder and cause of learning disabilities in children.
Better understanding of Down syndrome and early interventions can greatly increase the quality of life for children and adults with this disorder and help them live fulfilling lives.
April 19, 2014
- What is Down syndrome? National Down Syndrome Society. http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/. Accessed Nov. 14, 2013.
- Down syndrome fact sheet. National Down Syndrome Society. http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/. Accessed Nov. 14, 2013.
- Learning about Down syndrome. National Human Genome Research Institute. http://www.genome.gov/19517824. Accessed Nov. 14 2013.
- Down syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/down-syndrome. Accessed Nov. 14, 2013.
- Facts about Down syndrome. Centers for Disease Control and Prevention. http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.html. Accessed Nov. 13, 2013.
- Ostermaier KK. Down syndrome: Clinical features and diagnosis. http://www.uptodate.com/home. Accessed Nov. 14, 2013.
- Messerlian GM, et al. Overview of prenatal screening and diagnosis of Down syndrome. http://www.uptodate.com/home. Accessed Nov. 14, 2013.
- American College of Obstetricians and Gynecologists (ACOG) Committee on Practice Bulletins — Obstetrics. ACOG Practice Bulletin No. 77. Screening for fetal chromosomal abnormalities. Obstetrics & Gynecology. 2007;109:217. Reaffirmed 2011.
- Frequently asked questions. Pregnancy FAQ094. Genetic disorders. American College of Obstetricians and Gynecologists. http://www.acog.org/~/media/For%20Patients/faq094.pdf?dmc=1&ts=20131118T2245557486. Accessed Nov. 14, 2013.
- How do health care providers diagnose Down syndrome? Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/diagnosed.aspx. Accessed Nov. 18, 2013.
- Ghidini A. Chorionic villus sampling: Risks, complications, and techniques. http://www.uptodate.com/home. Accessed Dec. 4, 2013.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. Dec. 5, 2013.
- Patterson MC (expert opinion). Mayo Clinic, Rochester, Minn. Dec. 22, 2013.
- Harms RW (expert opinion). Mayo Clinic, Rochester, Minn. Jan. 16, 2014.
- American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstetrics & Gynecology. 2012;120:1532.
- Second trimester: Cordocentesis (percutaneous umbilical blood cord sampling, PUBS). Lab Tests Online. http://labtestsonline.org/understanding/wellness/pregnancy/second-trimester/cordo/. Accessed Jan. 17, 2014.