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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.
The second, combined with a normal gamete from the other parent, gives rise to a typical child. The third leads to a translocation Down syndrome child. The last becomes a translocation carrier, like the parent. Translocation Down syndrome is often referred to as familial Down syndrome. It is the cause of about 4.5% of the observed Down ...
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.
Brushfield spots are a characteristic feature of the chromosomal disorder Down syndrome or trisomy 21. They occur in 35–78% of newborn infants with Down syndrome. [ 2 ] Brushfield spots tend to be obscured by pigmentation of the anterior border layer of the iris in patients with darker irides.
In honor of Down Syndrome Awareness Month, which happens every October, we rounded up some informative facts about the chromosomal condition.
It was like, ‘We’re not going to look any further. Your child is normal.’” ... “In the most common type of Down syndrome, there are 47 chromosomes, with the extra one being chromosome 21 ...
The most common aneuploidy that infants can survive with is trisomy 21, which is found in Down syndrome, affecting 1 in 800 births. Trisomy 18 (Edwards syndrome) affects 1 in 6,000 births, and trisomy 13 (Patau syndrome) affects 1 in 10,000 births. 10% of infants with trisomy 18 or 13 reach 1 year of age. [9]
Down syndrome affects 400,000 people in the United States and more than 6 million globally. People with the condition inherit a third copy of chromosome 21, giving them an extra helping of a gene ...