XX 남성 증후군의 유전자검사 사례보고
A Case of Molecular Analysis of XX Male Syndrome
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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.
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.
참고문헌 (10)
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