Turner Syndrome

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Monosomy

Embryology - 17 May 2024 Expand to Translate
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ICD-11

LD50.0 Turner syndrome

Karyotype missing one X chromosome (45, X0 or 45,XO/46,XX mosaicism) ; gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotrophic 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.

LD43 Complete monosomies of the autosomes | LD43.0 Complete monosomy of autosome | LD43.1 Mosaic monosomy of autosome