A Case of Molecular Analysis of XX Male Syndrome.
10.7580/kjlm.2013.37.1.38
- Author:
Hye Young LEE
;
Sung Hee LYOO
;
Choon Hong HWANG
;
Soong Deok LEE
- Publication Type:Case Report
- Keywords:
XX male syndrome;
Y chromosome;
SRY gene;
DNA testing
- MeSH:
Amelogenin;
Female;
Genes, sry;
Humans;
Karyotype;
Klinefelter Syndrome;
Male;
Y Chromosome
- From:Korean Journal of Legal Medicine
2013;37(1):38-41
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Sex typing may become the start point in investigations that are usually performed through amelogenin typing. In cases involving genotype-phenotype discrepancy, amelogenin typing could yield misleading results. The rare XX male syndrome is characterized by a phenotypic male with a 46, XX female karyotype. In this point, this case report would help understand the importance of genotype-phenotype discrepancy.
