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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

✍ Scribed by Reddy, K.S.; Sulcova, V.; Ho, C.K.; Conner, E.D.; Khurana, A.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 444 KB
Volume: 66
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961230)66:4<441::aid-ajmg11>3.0.co;2-u

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✦ Synopsis

An infant with mixed gonadal dysgenesis was found to have a 45,X/46Xpsu 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 ratio of Y-positive cells was higher in the testis than in the streak ovary.