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Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
An anaphase lag of a chromosome 21 in a Down syndrome embryo leads to a fraction of euploid cells (2n cells), phenomenon described as "aneuploidy rescue". There is considerable variability in the fraction of cells with trisomy 21, both as a whole and tissue-by-tissue. This is the cause of 1–2% of the observed Down syndromes. [4]
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 ...
The exact characteristics of Down syndrome were not observed, so more genes involved for Down syndrome phenotypes have to be located elsewhere. Reeves et al., using 250 clones of chromosome-21 and specific gene markers, were able to map the gene in mutated bacteria. The testing had 99.7% coverage of the gene with 99.9995% accuracy due to ...
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 ...
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First major character with Down syndrome on a television series, portrayed by a person who also has Down syndrome. Chris Burke [113] 2018 Penny Stevenson: Doctors: She was born with a right arm that ends just below the elbow. Cerrie Burnell [114] 1994 Kerry Weaver: ER: Limp in her gait due to congenital hip dysplasia: Laura Innes [115] [116 ...