Turner syndrome (Q46911): Difference between revisions
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Cariótipo com falta de um cromossomo X (45,X0 ou 45,X0/46,XX mosaicismo); gônadas: ovários (estria); fenótipo de mulher com baixa estatura, amenorreia (hipogonadismo hipergonadotrófico), ausência de desenvolvimento sexual, pescoço alado, orelhas de implantação baixa, linha posterior do cabelo, mamilos bem espaçados, quarto metacarpo curto e ângulo de sustentação aumentado no cotovelo (cúbito valgo). Frequentemente associado a anormalidades renais, cardíacas e oculares. | |||
| description / en | description / en | ||
Karyotype missing one X chromosome (45,X0 or 45,X0/46,XX mosaicism); gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotropic hypogonadism), absence of sexual development, webbed neck, low set ears, posterior hairline, widely-spaced nipples, short fourth metacarpals, and increased carrying angle at the elbow (cubitus valgus). Often associated with renal, cardiac and ocular abnormalities. | |||
Revision as of 15:48, 13 August 2026
Karyotype missing one X chromosome (45,X0 or 45,X0/46,XX mosaicism); gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotropic hypogonadism), absence of sexual development, webbed neck, low set ears, posterior hairline, widely-spaced nipples, short fourth metacarpals, and increased carrying angle at the elbow (cubitus valgus). Often associated with renal, cardiac and ocular abnormalities.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD50.0 |
||
| English | Turner syndrome |
Karyotype missing one X chromosome (45,X0 or 45,X0/46,XX mosaicism); gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotropic hypogonadism), absence of sexual development, webbed neck, low set ears, posterior hairline, widely-spaced nipples, short fourth metacarpals, and increased carrying angle at the elbow (cubitus valgus). Often associated with renal, cardiac and ocular abnormalities. |
