An overview of down syndrome
DOI:
https://doi.org/10.47957/ijciar.v7i2.174Keywords:
Down syndrome, autosomal aneuploidy, mortality, phenotype, trisomy21Abstract
The most prevalent chromosomal disorder linked to intellectual disability is down syndrome, often known as Down's syndrome (DS), which is marked by a number of distinct clinical symptoms. About 1 in 800 newborns globally experience it. Approximately 500 live births are caused by DS each year in the US, while over 200,000 people are affected by the disorder. The first account of the syndrome dates back to 1866 and is credited to the English physician John Langdon Down of Cornwall. When the chromosomal cause of the disorder was identified more than 90 years later, it was termed Down syndrome. Although there is still inequality in access to health care and other supportive services, the potential for the development and socialization of people with Down syndrome has been more widely recognized, and early support for impacted children and their families is extensively adopted. Patients vary greatly in their phenotypic characteristics; intellectual disability is typically moderate but can be mild to severe, and social function is frequently good in comparison to cognitive impairment. Geographical location and ethnic origin also have an impact on the incidence and presentation of DS.
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