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47,XXY/48,XXY,+21 chromosomal mosaicism presenting as hypospadias with scrotal transposition
T Yamaguchi1, R Hamasuna, Y Hasui
1Department of Urology, Miyazaki Medical College, Japan.
The Journal of Urology
|September 1, 1989
Abstract:
The syndrome of 47,XXY/48,XXY,+21 chromosomal mosaicism, double aneuploidy, is extremely rare and characterized by combined manifestations of Klinefelter's and Down's syndromes. We report a case of XXY/XXY,+21 mosaicism presenting with hypospadias associated with scrotal transposition.