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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.
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]
Screening for Down syndrome by a combination of maternal age and thickness of nuchal translucency in the fetus at 11–14 weeks of gestation was introduced in the 1990s. [7] This method identifies about 75% of affected fetuses while screening about 5% of pregnancies. Natural fetal loss after positive diagnosis at 12 weeks is about 30%. [6]
For Ashley Zambelli, a surprise diagnosis allowed her to have an even more special bond with her children.. The Michigan-based mom, 23, recently found out she has Mosaic Down syndrome, a condition ...
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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 ...
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 ...
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