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KMID : 0357820130370010038
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Korean Journal of Legal Medicine
2013 Volume.37 No. 1 p.38 ~ p.41
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A Case of Molecular Analysis of XX Male Syndrome
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Lee Hye-Young
Lyoo Sung-Hee
Hwang Choon-Hong
Lee Soong-Deok
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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.
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KEYWORD
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XX male syndrome, Y chromosome, SRY gene, DNA testing
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