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