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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.
Down Syndrome Symptoms Down syndrome is usually diagnosed during pregnancy through genetic screening or at birth through diagnostic tests. There are some distinct physical features that typically ...
Treatment is supportive. [2] After having one child with the condition, the risk of having a second is typically around one percent. [2] It is the second-most common condition due to a third chromosome at birth, after Down syndrome for a third chromosome 21. [4] Trisomy 18 occurs in around 1 in 5,000 live births. [3]
[8] [50] Subclinical hypothyroidism is estimated to affect approximately 2% of children; in adults, subclinical hypothyroidism is more common in the elderly, and in White people. [49] There is a much higher rate of thyroid disorders, the most common of which is hypothyroidism, in individuals with Down syndrome [30] [62] and Turner syndrome. [30]
Not all genetic disorders directly result in death; however, there are no known cures for genetic disorders. Many genetic disorders affect stages of development, such as Down syndrome, while others result in purely physical symptoms such as muscular dystrophy. Other disorders, such as Huntington's disease, show no signs until adulthood.
The first symptoms are often mistakenly attributed to aging or stress. [34] Detailed neuropsychological testing can reveal mild cognitive difficulties up to eight years before a person fulfills the clinical criteria for diagnosis of Alzheimer's disease. [35] These early symptoms can affect the most complex activities of daily living. [36]
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]
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