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J Urol. 1989 Sep;142(3):797-8.

47,XXY/48,XXY,+21 chromosomal mosaicism presenting as hypospadias with scrotal transposition.

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  • 1Department of Urology, Miyazaki Medical College, Japan.

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.

PMID:
2769862
[PubMed - indexed for MEDLINE]
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