Catalog

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

LD50.04

Link to WHO Definition

Mosaicism, 45, X or other cell line with abnormal sex chromosome – http://id.who.int/icd/entity/50021633

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.

Parents