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Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia

✍ Scribed by Marshall, I. ;Betensky, B.P. ;Goseco, Amanda ;Flieder, D. ;Vogiatzi, M.V.


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
119 KB
Volume
124A
Category
Article
ISSN
0148-7299

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