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ATYPICAL TRUE HERMAPHRODITISM WITH A MOSAIC 45,X/46,X,dic(Y) (q11.2) KARYOTYPE

✍ Scribed by SHIMODA, NAOTAKE; SATO, KAZUNARI; SATOH, SHIGERU; OGAWA, OSAMU; ITO, SEIKI; KATO, TETSURO

Book ID
121941739
Publisher
Lippincott Williams and Wilkins
Year
1998
Tongue
English
Weight
481 KB
Volume
160
Category
Article
ISSN
0022-5347

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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

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We describe an infant with dysgenetic male pseudohermaphroditism and the karyotype 45,X/46,X,del(Y)(q11.1). Histologic examination of the resected gonads showed cortical dysplasia indicative of incipient gonadoblastoma.