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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.
Down Syndrome is a genetic disorder that was first described in 1866 by British doctor John L. Down. [2] It was discovered to be caused by an extra chromosome by French pediatrician Jérôme Lejeune in July 1958, less than two years before Tricia was born. [3] Medical advice in 1960 was typically to institutionalize children with Down Syndrome.
Mosaic Down syndrome: Only some cells in the person have an extra copy of chromosome 21. This genetic cause is considered rare. This genetic cause is considered rare.
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]
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Burger and Ashlyn welcomed Penelope, who was born with Down syndrome, on Friday, Oct. 25 MLB's Jake Burger and Wife Share Reaction to Baby Daughter Penelope's Down Syndrome Diagnosis: 'Biggest ...
In a small percentage of cases, Down syndrome is caused by a rearrangement of chromosomal material between chromosome 21 and another chromosome. As a result, a person has the usual two copies of chromosome 21, plus extra material from chromosome 21 attached to another chromosome. These cases are called translocation Down syndrome.
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