Trisomy occurs when there are three copies of a specific chromosome rather than a pair. This results in a chromosomal abnormality that can impact physical, medical, developmental, and intellectual functions. This entry includes a description of the etiology and diagnosis of trisomy, the terminology associated with trisomy, information about epidemiology and risk factors, and a brief overview of the most common trisomy syndromes.

Cause of Trisomy

Humans typically have 46 chromosomes comprised of 23 pairs stored in the nucleus of the cells in the human body. Each chromosome contains approximately 20,000 to 25,000 genes. One set of 23 chromosomes is inherited from the biological mother (from the egg) and one set from the biological father (from the sperm). The first 22 pairs are called autosomes and the ...

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