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Parental origin and mechanism of formation of a 46,X,der(X)(pter→q21.1::p11.4→pter)/45,X karyotype in a woman with mild Turner syndrome

✍ Scribed by Franz Binkert; Ana Spreiz; Martina Höckner; Peter Miny; Brigitte von Dach Leu; Martin Erdel; Johannes Zschocke; Gerd Utermann; Dieter Kotzot


Book ID
116476597
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
268 KB
Volume
94
Category
Article
ISSN
1556-5653

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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 👁 2 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