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A case of 46,X,der(X)(pter→q21::p21→pter) with gonadal dysgenesis, tall stature, and endometriosis

✍ Scribed by Yasuhiko Nakamura; Yutaka Suehiro; Norihiro Sugino; Kohsuke Sasaki; Hiroshi Kato


Book ID
119417128
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
71 KB
Volume
75
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