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A trisomy is a type of aneuploidy in which there are three chromosomes instead of the usual pair. Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) are the three most commonly occurring autosomal chromosome aneuploidies in live births. These chromosomal conditions are caused by the presence of an extra copy or partial copy of chromosome 21, 18 or 13 respectively. This additional genetic material can cause dysmorphic features, congenital malformation, and different degrees of intellectual disability.
Deletion syndromes are defined as a group of clinically recognizable disorders characterized by a small deletion of a chromosomal segment. The size and position of the deletion determine which clinical features are manifested and how severe they are.
Clinical features of deletions can include developmental delays and intellectual disability, and growth.
differences, behavioral problems, feeding difficulties, low muscle tone, seizures, dysmorphic features, and a pattern of varying malformations.
Sex Chromosomal Aneuploidies
Sex chromosome aneuploidy is defined as a numeric abnormality of an X or Y chromosome, with addition or loss of an entire X or Y chromosome. Although most cases of sex chromosome aneuploidies are generally mild without intellectual disability, some have a well-established phenotype that can include physical abnormalities, learning delays and infertility.
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