45,X-46,X,DIC(YQ) MOSAICISM AND MIXED GONADAL DYSGENESIS - CASE-REPORT AND REVIEW OF LITERATURE

  • 1 January 1977
    • journal article
    • review article
    • Vol. 20  (4) , 269-272
Abstract
A 4 yr 7 mo.-old boy with ambiguous genitalia, histological evidence of mixed gonadal dysgenesis, and 45,X/46,X,dic(Yq) mosaicism is reported. The identity of the dicentric Y chromosome was established by its typical fluorescent banding patterns and the presence of 2 centrometers demonstrated by C[constitutive heterochromatin]-band technique. A review of the literature yielded 9 additional cases of mosaic 45,X/46,X,dic(Yq). Phenotypical and histological findings among these cases were compared, and the possible localization of the genes responsible for testicle induction and maturation is discussed.

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