2012•Chinese Journal of Birth Health & HeredityRequires access
Molecular and cytogenetic studies on a patient with 46,XX male syndrome
Zhihua Chen
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Abstract
Objective: To analyze the clinical,molecular and cytogenetic features of 46,XX(SRY +)male syndrome.Methods: Analysed the karyotype of peripheral blood lymphocytes;Extracted genomic DNA from peripheral blood and detected the SRY gene.And used a normal male and female as a control.Results: The patients karyotype was 46,XX and the SRY gene was positive.Conclusion: Male patient with 46,XX(SRY+) had the phenotype characteristics of male,which might be associated with the expression of the SRY gene.SRY gene detection was conduc,XX(Sive to the clinical diagnosis of a clear reversal syndrome.It will provide the basis for diagnosis and treatment for the patients with abnormal sexual development by cytogenetics and molecular genetics