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Report of an XX male with hypospadias and pubertal gynecomastia, SRY gene negative in blood leukocytes but SRY gene positive in testicular cells.

作者信息

Dardis A, Saraco N, Mendilaharzu H, Rivarola M, Belgorosky A

机构信息

Laboratory Research Unit, Hospital de Pediatria, Garrahan, Buenos Aires, Argentina.

出版信息

Horm Res. 1997;47(2):85-8. doi: 10.1159/000185438.

DOI:10.1159/000185438
PMID:9030973
Abstract

Most XX male subjects present an anomalous translocation of the sex-determining region of the chromosome Y (SRY) gene from chromosome Y to chromosome X. Several explanations have been proposed for the differentiation of testicular tissue in the absence of SRY gene. A patient is presented in whom the SRY gene was absent in peripheral leukocytes but present in testicular tissue. This possibility should always be ruled out before diagnosing Y-negative XX maleness.

摘要

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Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.6例XX男性(包括1例产前诊断病例)的分子、细胞遗传学及临床特征分析
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