Turner Syndrome

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Monosomy

Embryology - 26 Sep 2026 Expand to Translate
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Educational Use Only - Embryology is an educational resource for learning concepts in embryological development, no clinical information is provided and content should not be used for any other purpose.

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

Cite this page: Hill, M.A. (2026, September 26) Embryology Turner Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Turner_Syndrome

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