47，XXY/48，XXY，+21染色体嵌合体表现为尿道下裂伴阴囊转位。

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

作者信息

Yamaguchi T, Hamasuna R, Hasui Y, Kitada S, Osada Y

机构信息

Department of Urology, Miyazaki Medical College, Japan.

出版信息

J Urol. 1989 Sep;142(3):797-8. doi: 10.1016/s0022-5347(17)38892-4.

DOI:10.1016/s0022-5347(17)38892-4

PMID:2769862

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.

摘要

47,XXY/48,XXY,+21染色体嵌合体综合征，即双非整倍体，极为罕见，其特征为克兰费尔特综合征和唐氏综合征的联合表现。我们报告一例XXY/XXY,+21嵌合体病例，该病例表现为尿道下裂合并阴囊转位。