Karyotype 47,XXX (Q46917): Difference between revisions
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Trissomia X é uma anomalia do cromossomo sexual com um fenótipo variável causado pela presença de um cromossomo X extra em mulheres (47, XXX em vez de 46, XX). A maioria dos indivíduos é apenas levemente afetada ou assintomática, as características físicas mais comuns incluem estatura alta, dobras epicânticas, hipotonia e clinodactilia, com convulsões, anormalidades renais e geniturinárias e insuficiência ovariana prematura também sendo achados associados. | |||
| description / en | description / en | ||
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). Most individuals are only mildly affected or asymptomatic, the most common physical features including tall stature, epicanthal folds, hypotonia and clinodactyly, with seizures, renal and genitourinary abnormalities, and premature ovarian failure being also associated findings. | |||
Revision as of 15:48, 13 August 2026
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). Most individuals are only mildly affected or asymptomatic, the most common physical features including tall stature, epicanthal folds, hypotonia and clinodactyly, with seizures, renal and genitourinary abnormalities, and premature ovarian failure being also associated findings.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD50.1 |
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| English | Karyotype 47,XXX |
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). Most individuals are only mildly affected or asymptomatic, the most common physical features including tall stature, epicanthal folds, hypotonia and clinodactyly, with seizures, renal and genitourinary abnormalities, and premature ovarian failure being also associated findings. |
