XXXX syndrome

XXXX syndrome (also called tetrasomy X, quadruple X, or 48, XXXX) is a chromosome disorder in females caused by the presence of four X chromosomes rather than the usual two. The disorder is characterized by decreased intelligence (IQ 30 to 80; average 55), speech and behavioral problems, tall stature and reduced fertility. Also known as tetra-X syndrome.

Tetrasomy X is a chromosomal aneuploidy, meaning it arises from a defect in meiosis. This can occur when homologous X chromosomes fail to separate in the formation of the egg or sperm. Tetrasomy X is usually suspected based on symptoms present in the individual and is confirmed via karyotyping, which reveals the extra X chromosomes.

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