Korean J Leg Med.
2013 Feb;37(1):38-41. 10.7580/kjlm.2013.37.1.38.
A Case of Molecular Analysis of XX Male Syndrome
- Affiliations
-
- 1Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea. sdlee@snu.ac.kr
- 2Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Korea.
- 3Dowgene, Seoul, Korea.
- KMID: 2250279
- DOI: http://doi.org/10.7580/kjlm.2013.37.1.38
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.
