Mosaicism, 45, X or other cell line with abnormal sex chromosome (Q46916): Difference between revisions

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Latest revision as of 15:48, 13 August 2026

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.

Language	Label	Description	Also known as
default for all languages	LD50.04
English	Mosaicism, 45, X or other cell line with abnormal sex chromosome	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.