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Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

✍ Scribed by dos Santos, Ana; Ribeiro Andrade, Juliana; Piveta, Cristiane Santos; de Paulo, Juliana; Guerra-Junior, Gil; de Mello, Maricilda; Maciel-Guerra, Andréa


Book ID
121602093
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
482 KB
Volume
14
Category
Article
ISSN
1471-2350

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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