Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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About Down syndrome

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome. It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability. In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm - although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all. There are three types of Down syndrome: trisomy 21 (nondisjunction), translocation and mosaicism.

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