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Research of Down syndrome–related genes is based on studying the genes located on chromosome 21. In general, this leads to an overexpression of the genes. [1] [2] Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to 250 genes. [3]
Some research has suggested the Down syndrome critical region is located at bands 21q22.1–q22.3, [106] with this area including genes for the amyloid precursor protein, superoxide dismutase, and likely the ETS2 proto oncogene. [107] Other research, however, has not confirmed these findings. [96] MicroRNAs are also proposed to be involved. [108]
The obsolete medical terms Mongolian idiocy and Mongolism referred to a specific type of mental deficiency, associated with the genetic disorder now known as Down syndrome. The obsolete term for a person with this syndrome was called a Mongolian idiot .
A guide to Down syndrome including symptoms and diagnosis of this genetic condition.
The Ts1Cje mouse model of Down Syndrome was developed at the University of California, San Francisco in 1997. This model has a partial triplication of MMU 16 that is smaller than the triplicated region in the Ts65Dn model. Ts1Cje triplication contains what has been identified as the Down Syndrome Critical Region, a region involved in all forms ...
The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this number varies widely. [3] At the same time, they enjoy a rich social and emotional awareness. [4] Down syndrome is the most common chromosome abnormality in humans, [3] occurring in about one per 1000 babies born each ...
March 21 (3/21) is World Down Syndrome Day, chosen because people with Down Syndrome have three copies of the 21st chromosome instead of the usual two. "Gabe lives his life to the fullest," Nick ...
Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy, genetic background ...