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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.
Dermatology Vesiculopustular eruption and leukemoid reaction in Down syndrome is a cutaneous condition, an extensive neonatal vesiculopustular eruption seen in people with Down syndrome. [ 1 ]
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.
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]
Genodermatosis is a hereditary disease, knowing as much as possible about a detailed and complete family history helps in screening and diagnosis; 3. People can do a detailed physical examination to observe the special features and manifestations of other organs besides skin. It can help to narrow down the disease and make a definitive ...
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.
A small study of 100 men in India found that androgenetic alopecia (male pattern baldness) can be an early warning sign of metabolic syndrome. This condition is a collection of symptoms pointing ...
The National Down Syndrome Society (NDSS) is an American organization that offers support to people with Down syndrome, their families, friends, teachers, and coworkers, and educates the general public about Down syndrome. The mission of the NDSS is to be the leading human rights organization for all individuals with Down syndrome. [1]