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[2013] 7. Hye Young Lee, Sung Hee Lyoo, Choon Hong Hwang, Soong Deok Lee |
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Poster :
Date : 13-03-06 11:25
Hit : 1249
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Publication; issue : 2013 Year 37 Vol 1 iss 38-41 p
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(417.5K), Down : 84, 2013-03-06 11:25:36 | |
A Case of Molecular Analysis of XX Male Syndrome
Korean J Leg Med 2013;37:38-41. Korean
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Department of Forensic Medicine, Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Korea
Dowgene, Seoul, Korea
E-mail : sdlee@snu.ac.kr
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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