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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.
Translocation Down syndrome can be passed from parent to child, but this is rare. In these cases, the parent may have extra genetic material from chromosome 21 but no signs of Down syndrome ...
A child with Down syndrome. A prominent example of a genetically determined neurodevelopmental disorder is trisomy 21, also known as Down syndrome. This disorder usually results from an extra chromosome 21, [41] although in uncommon instances it is related to other chromosomal abnormalities such as translocation of the genetic material.
There are often no physical signs of mild forms of ID, although there may be characteristic physical traits when it is associated with a genetic disorder (e.g. Down syndrome). [15] The level of impairment ranges in severity for each person. Some of the early signs can include: [15]
A dad in Florida describes the shock, and then the gratitude, he and his wife felt upon welcoming a child with Down syndrome into their family. Fox News Digital spoke with dad Aric Berquist.
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 ...
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 ...
[8] 45% of children with Down syndrome have congenital heart disease. Of these, 35–40% have AV septal defects. [9] Approximately 40-50% of fetuses diagnosed with AVCD have Down syndrome, and a further 15-20% are associated with other chromosomal abnormalities and syndromes, such as DiGeorge syndrome.