Pentasomy X - Wikipedia - Recent changes [en]

The condition has a large variety of symptoms, and it is difficult to paint a conclusive portrait of its phenotypes. Though significant disability is characteristic, there are so few diagnosed cases that confident conclusions about the presentation and prognosis remain impossible. Pentasomy X may be mistaken for more common chromosomal disorders, such as [[Down syndrome]] or [[Turner syndrome]], before a conclusive diagnosis is reached.

The condition has a large variety of symptoms, and it is difficult to paint a conclusive portrait of its phenotypes. Though significant disability is characteristic, there are so few diagnosed cases that confident conclusions about the presentation and prognosis remain impossible. Pentasomy X may be mistaken for more common chromosomal disorders, such as [[Down syndrome]] or [[Turner syndrome]], before a conclusive diagnosis is reached.

Pentasomy X is not inherited but rather occurs via [[nondisjunction]], a random event in [[gamete]] development. . The [[karyotype]] observed in pentasomy X is formally known as 49,XXXXX, which represents the 49 chromosomes observed in the disorder as compared to the 46 in typical human development.

Pentasomy X is not inherited but rather occurs via [[nondisjunction]], a random event in [[gamete]] development. The [[karyotype]] observed in pentasomy X is formally known as 49,XXXXX, which represents the 49 chromosomes observed in the disorder as compared to the 46 in typical human development.

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