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Turner-Syndrom

Definition

A disorder of gonadal differentiation, marked by short stature, undifferentiated (streak) gonads, and variable abnormalities that may include webbing of the neck, low posterior hair line, increased carrying angle of the elbow, cubitus valgus, and cardiac defects. It is typically associated with absence of the second sex chromosome (XO, or 45,X), although structural abnormality of one X chromosome or mosaicism (e.g., XX/XX or X/XXX) may also be responsible. The phenotype is female and patients are usually sterile. (Dorland, 27th ed)

Synonyme

Turner-Syndrom, Ulrich-Turner-Syndrom

UMLS

TURNER-SYNDROM

Bilder

1 Bilder für diese Diagnose
Lokalisation: Nacken, Diagnose: Turner-Syndrom