Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype

An infant with a mosaic 45,X/46,X,psu di

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

✍ Reddy, K.S.; Sulcova, V.; Ho, C.K.; Conner, E.D.; Khurana, A. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 444 KB 👁 1 views

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 hybridi