|
KMID : 1189120080050020145
|
|
대한의학유전학회지
2008 Volume.5 No. 2 p.145 ~ p.149
|
|
|
A Case of a 46,XX Male with SRY Gene
|
|
Min Jeong-Yong
Lee Dong-Suk
Cho Soo-Kyung
Park So-Hyun
Lee Soo-Min
Baek Min-Kyung
Kim Ki-Chul
Hwang Do-Yeong
|
|
|
Abstract
|
|
|
|
46, XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chomosome. 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 neonatess. The SRY gene is located at the short arm of Y chromosome (Yp11.31) and codes for the testis determining factor in humans. Here, The patient, with a normal male phenotype, was referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX karyotype. Quantitative fluorescent polymerase chain reaction and multi - PCR studies identified SRY gene. And, Fluorescence In Situ Hybridization confirmed SRY gene on the distal short arm of chromosome X. We identifed SRY gene on the distal short arm of chromosome X by molecular cytogenetic and molecular analyses. Therefore, Molecular-cytogenetics (FISH) and molecular (PCR) studies was proved to be clinically useful adjunctive tool to conventional prenatal cytogenetic analysis.
|
|
|
KEYWORD
|
|
|
46, XX male, SRY gene, QF-PCR, FISH
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|
|