| A Case of Molecular Analysis of XX Male Syndrome. |
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Hye Young Lee, Sung Hee Lyoo, Choon Hong Hwang, Soong Deok Lee |
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. |
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| Abstract |
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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. |
| Key Words:
XX male syndrome, Y chromosome, SRY gene, DNA testing |
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