LD50.04

Mosaicism, 45, X or other cell line with abnormal sex chromosome

Mosaicismo, 45, X ou outra linha celular com cromossomo sexual anormal

Category

Definition

A disease caused by embryonic fusion or the structural mutation of a sex chromosome early in embryonic development, resulting in a subset of cells in the body having one normal copy of the X chromosome and one abnormal sex chromosome. This disease may present with short stature, sexual organ dysfunction, or may be asymptomatic.

Index Terms

Mosaicism, 45, X or other cell line with abnormal sex chromosome