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A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: Cytogenetics, molecular, and methylation studies

✍ Scribed by Giorgio Gimelli; Roberto Giorda; Silvana Beri; Stefania Gimelli; Orsetta Zuffardi


Book ID
101452917
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
246 KB
Volume
140A
Category
Article
ISSN
1552-4825

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