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. 1996 Dec 30;66(4):441-4.
doi: 10.1002/(SICI)1096-8628(19961230)66:4<441::AID-AJMG11>3.0.CO;2-U.

An infant with a mosaic 45,X/46,X,psu dic(Y) (pter-->q11.2::q11.2-->pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads

K S Reddy  1 , V Sulcova, C K Ho, E D Conner, A Khurana
Affiliations

An infant with a mosaic 45,X/46,X,psu dic(Y) (pter-->q11.2::q11.2-->pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads

K S Reddy et al. Am J Med Genet. .

Abstract

AN infant with mixed gonadal dysgenesis was found to have a 45,X/46,Xpsu dic(Y) karyotype. A low level (8%) of mosaicism for the dic(Y) cell line was observed in peripheral blood lymphocytes and skin fibroblasts. The dicentric nature of the Y chromosome became apparent in fluorescence in situ hybridization studies. The presence of Y centromeric sequences was demonstrated in the paraffin-embedded testis and streak ovary sections. The ration of Y-positive cells was higher in the testis than in the streak ovary.

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