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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.
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 of Down syndrome–related genes is based on studying the genes located on chromosome 21. In general, this leads to an overexpression of the genes. [1] [2] Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to 250 genes. [3]
At present, treatment for distal 18q- is symptomatic, meaning the focus is on treating the signs and symptoms of the conditions as they arise. To ensure early diagnosis and treatment, people with distal 18q- are suggested to undergo routine screenings for thyroid, hearing, and vision problems.
Down Syndrome is a genetic disorder that was first described in 1866 by British doctor John L. Down. [2] It was discovered to be caused by an extra chromosome by French pediatrician Jérôme Lejeune in July 1958, less than two years before Tricia was born. [3] Medical advice in 1960 was typically to institutionalize children with Down Syndrome.
Infantile epileptic spasms syndrome appears in 1% to 5% of infants with Down syndrome. IESS in those with Down syndrome is milder, more responsive to treatment (due to unknown reasons), and less likely to evolve into Lennox-Gastaut syndrome or other forms of epilepsy. [citation needed] A child with Down syndrome presenting with seizures that ...
Research, including a 2014 meta-analysis of studies involving more than 1.2 million children, found no association between vaccines and autism.
While there, Epstein worked to understand the nature of Werner's syndrome, a genetic disease that causes premature aging. [6] He is most notable for conducting groundbreaking research on Down syndrome. [7] In 1967 he became the chairman of the medical genetics division in the pediatrics department of UC San Francisco. He did research on making ...
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