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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.
In honor of Down Syndrome Awareness Month, which happens every October, we rounded up some informative facts about the chromosomal condition.
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 ...
Research has found that there is a correlation between advanced paternal age and risk of birth defects such as limb anomalies, syndromes involving multiple systems, and Down syndrome. [74] [35] [93] Recent studies have concluded that 5-9% of Down syndrome cases are due to paternal effects, but these findings are controversial. [74] [75] [35] [94]
Though Evelyn does not have trisomy 21, there is a possibility that, like her mom, she will also have mosaic Down syndrome, and is currently awaiting results from her own buccal swab.
Children with Down syndrome sometimes have heart problems, frequent ear infections, hypotonia, or undeveloped muscle mass. Children can also be diagnosed with a learning disability , which are disabilities in any of the areas related to language, reading, and mathematics, with basic reading skills being the most common learning disability.
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 ...