A Case of a 46,XX Male with SRY Gene
Journal of Genetic Medicine
;
: 145-149, 2008.
Artigo
em Coreano
| WPRIM
| ID: wpr-124727
ABSTRACT
46,XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chromosome. Manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules. The incidence of XX male reversal is approximately 1 in 20,000 male neonates. The SRYgene is located at the short arm of the Y chromosome(Yp11.31) and codes for testis determining factor in humans. Here, the patient, who presented with a normal male phenotype, was referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX karyotype. Quantitative fluorescent polymerase chain reaction(QF-PCR) and Multiplex PCR studies identified SRY gene. And, Fluorescence In Situ Hybridization(FISH) confirmed the SRY gene on the distal short arm of chromosome X. We identified the SRY gene on the distal short arm of chromosome X by molecular cytogenetic and molecular analyses. Therefore, molecular-cytogenetics and molecular studies were proved to be clinically useful adjunctive tool to conventional prenatal cytogenetic analysis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Braço
/
Túbulos Seminíferos
/
Testículo
/
Cromossomo Y
/
Incidência
/
Constituição e Estatutos
/
Análise Citogenética
/
Citogenética
/
Genes sry
Tipo de estudo:
Estudo de incidência
/
Estudo prognóstico
Limite:
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Coreano
Revista:
Journal of Genetic Medicine
Ano de publicação:
2008
Tipo de documento:
Artigo
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