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. 1975 Jun;12(2):210-2.
doi: 10.1136/jmg.12.2.210.

Dicentric Y chromosome in mixed gonadal dysgenesis

A Hayek, E Yunis

Dicentric Y chromosome in mixed gonadal dysgenesis

A Hayek et al. J Med Genet. 1975 Jun.

Abstract

A 15-year-old girl was investigated because of ambiguous genitalia. Her chromosome studies showed a 45, X/45, Xdic(Yq) mosaicism. The identity of the dicentric Y chromosome was demonstrated by its typical fluorescent banding patterns. Histological evidence of mixed gonadal dysgenesis with intragonadal tumour was observed, confirming the occurrence of gonadoblastoma associated with mosaicism in which at least one cell bears a Y chromosome.

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