Down syndrome

Epic card · No. 11102

Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features. The parents of the affected individual are usually genetically normal. The incidence of the syndrome increases with the age of the mother, from less than 0.1% for 20-year-old mothers to 3% for those of age 45. It is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability. Three different genetic forms have been identified. The most common, trisomy 21, involves an extra copy of chromosome 21 in all cells. The extra chromosome is provided at conception as the egg and sperm combine. Translocation Down syndrome involves attachment of extra chromosome 21 material. In 1–2% of cases, the additional chromosome is added in the embryo stage and only affects...

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