Karyotype 45, X (Q46912): Difference between revisions
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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 |
||
| 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. |
