Mosaicism, 45, X or other cell line with abnormal sex chromosome (Q46916): Difference between revisions
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| description / pt-br | description / pt-br | ||
Doença causada por fusão embrionária ou mutação estrutural de um cromossomo sexual no início do desenvolvimento embrionário, resultando em um subconjunto de células no corpo com uma cópia normal do cromossomo X e um cromossomo sexual anormal. Esta doença pode se apresentar com baixa estatura, disfunção dos órgãos sexuais ou pode ser assintomática. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
