Karyotype 45, X (Q46912): Difference between revisions
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| description / pt-br | description / pt-br | ||
Doença que afeta mulheres, causada por ausência de um dos dois cromossomos X. Esta doença pode se manifestar com baixa estatura, dobras extras de pele no pescoço, linha do cabelo baixa na nuca, inchaço ou edema de mãos e pés, anormalidades esqueléticas, hipofunção ovariana ou insuficiência ovariana prematura, problemas renais ou defeitos cardíacos. A confirmação é feita por meio da observação de apenas um cromossomo X por cariotipagem. | |||
| description / en | description / en | ||
A disease affecting females, caused by absence of one of the two X chromosomes. This disease may present with short stature, extra folds of skin on the neck, a low hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities, ovarian hypofunction or premature ovarian failure, kidney problems, or heart defects. Confirmation is through observation of only one X chromosome by karyotyping. | |||
Revision as of 15:48, 13 August 2026
A disease affecting females, caused by absence of one of the two X chromosomes. This disease may present with short stature, extra folds of skin on the neck, a low hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities, ovarian hypofunction or premature ovarian failure, kidney problems, or heart defects. Confirmation is through observation of only one X chromosome by karyotyping.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD50.00 |
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| English | Karyotype 45, X |
A disease affecting females, caused by absence of one of the two X chromosomes. This disease may present with short stature, extra folds of skin on the neck, a low hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities, ovarian hypofunction or premature ovarian failure, kidney problems, or heart defects. Confirmation is through observation of only one X chromosome by karyotyping. |
