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Mixed gonadal dysgenesis in a child with isodicentric y chromosome: Does the relative proportion of the 45,X line really matter?

✍ Scribed by Marwan Shinawi; Mark P. Cain; Brian A. VanderBrink; David J. Grignon; Drew Mensing; M. Lance Cooper; Patricia Bader; Sau Wai Cheung


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
192 KB
Volume
152A
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