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People with Down syndrome may have these physical characteristics: a small chin, epicanthic folds, low muscle tone, a flat nasal bridge, a single crease of the palm, and a protruding tongue. A protruding tongue is caused by low tone and weak facial muscles, and often corrected with myofunctional exercises. [ 39]
Genetics of Down syndrome. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole ( trisomy 21) or part (such as due to translocations ). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy ...
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.
Most women, especially those with a low chance of having a child with Down syndrome, may wish to avoid the risk to the fetus and the discomfort of invasive testing. In 2011, Sequenom announced the launch of MaterniT21, a non-invasive blood test with a high level of accuracy in detecting Down syndrome (and a handful of other chromosomal ...
A guide to Down syndrome including symptoms and diagnosis of this genetic condition.
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]
“The person could have some physical features of Down syndrome, such as the single crease often seen in the palm of a child with Down syndrome, or even health issues such as heart defects ...
John Langdon Down. John Langdon Haydon Down (18 November 1828 – 7 October 1896) was a British physician best known for his description of the genetic condition now known as Down syndrome, which he originally classified in 1862. He is also noted for his work in social medicine and as a pioneer in the care of mentally disabled patients.