Turner syndrome

Тодорхойлолт

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.

Оруулагдах онош Inclusions

• Monosomy X

Индексийн нэр томьёо Index terms · 4

Дэд ангилал 5

• LD50.00Karyotype 45, X›
• LD50.01Karyotype 46, X iso Xq›
• LD50.02Karyotype 46, X with abnormal sex chromosome, except iso Xq›
• LD50.03Mosaicism, 45, X, 46, XX or XY›
• LD50.04Mosaicism, 45, X or other cell line with abnormal sex chromosome›