CausesBy Mayo Clinic staff
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|The genetic basis of Down syndrome|
Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.
Down syndrome results when one of three types of abnormal cell division involving chromosome 21 occurs. All three cell division abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of Down syndrome. The three genetic variations that can cause Down syndrome include:
- Trisomy 21. More than 90 percent of the time, Down syndrome is caused by trisomy 21. A child with trisomy 21 has three copies of chromosome 21 — instead of the usual two copies — in all of his or her cells. This form of Down syndrome is caused by abnormal cell division during the development of the sperm cell or the egg cell.
- Mosaic Down syndrome. In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
- Translocation Down syndrome. Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. Children with translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 attached to the translocated chromosome. This form of Down syndrome is uncommon.
There are no known behavioral or environmental factors that cause Down syndrome.
Is it inherited?
Most of the time, Down syndrome isn't inherited. It's caused by a mistake in cell division during the development of the egg, sperm or embryo.
Translocation Down syndrome is the only form of the disorder that can be passed from parent to child. However, only about 4 percent of children with Down syndrome have translocation. And only about half of these children inherited it from one of their parents.
When translocations are inherited, the mother or father is a balanced carrier of the translocation, which means he or she has some rearranged genetic material, but no extra genetic material. A balanced carrier has no signs or symptoms of Down syndrome, but he or she can pass the translocation on to children.
The chance of passing on the translocation depends on the sex of the parent who carries the rearranged chromosome 21:
- If the father is the carrier, the risk is about 3 percent.
- If the mother is the carrier, the risk is between 10 and 15 percent.
- Facts about Down syndrome. National Institute of Child Health and Human Development. http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm. Accessed Feb. 14, 2011.
- Barss V, et al. Overview of prenatal screening and diagnosis of Down syndrome. http://www.uptodate.com/home/index.html. Accessed Feb. 14, 2011.
- Esbensen AJ. Health conditions associated with aging and end of life of adults with Down syndrome. International Review of Research in Mental Retardation. 2010;39:107.
- What causes Down syndrome? National Down Syndrome Society. http://www.ndss.org/index.php?option=com_content&task=category§ionid=23&id=60&Itemid=234. Accessed Feb. 14, 2011.
- Genetic conditions: Down syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=downsyndrome. Accessed Feb. 14, 2011.
- ACOG practice bulletin no. 77: Screening for fetal chromosomal abnormalities. Obstetrics and Gynecology. 2007;109:217.
- Birth defects: Down syndrome. Centers for Disease Control and Prevention. http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.htm. Accessed Feb. 15, 2011.
- Roizen NJ. Clinical features and diagnosis of Down syndrome. http://www.uptodate.com/home/index.html. Accessed Feb. 15, 2011.
- Birth defects. In: American College of Obstetricians and Gynecologists. Your Pregnancy and Childbirth Month to Month. 5th ed. Washington, D.C.: American College of Obstetricians and Gynecologists; 2010:343.
- Harms RW (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 15, 2011.
- Chiu RWK, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study. British Medical Journal. 2011;342:7401.