Andrology-Open Access
Open Access

Metin Çapar

Publications

• Case Report
  A New Female Case with 47,XXY Karyotype and SRY
  Author(s): Hasan Acar, Hakan Taskapu, M. Hamza Muslumanoglu and Metin Çapar Hasan Acar, Hakan Taskapu, M. Hamza Muslumanoglu and Metin Çapar
  
  Objective: Numerical abnormalities of sex chromosome, 47,XXY karyotype, have the clinical phenotype of Klinefelter syndrome. Very few 47,XXY cases with a female phenotype have been reported. The testicular feminization syndrome is a female phenotype with a male karyotype (46,XY). Most of these cases have SRY positive SRY (testis-determining factor). The genetic explanation of this phenomenon is not very clear. Methods: Clinical examination, conventional cytogenetic analysis, fluorescence insitu hybridization and molecular genetic analysis polymerease chain reaction were done on a 17 year old female patient. Results: Clinical examination revealed that the case had a female external genitalia, breast development and pubic hair. Some clinical findings of the patients are unique and not similar to the other cases reported in the literature. The present case has different clinical features.. View More»
  DOI: 10.4172/2167-0250.1000157

  Abstract PDF

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