[Cytogenetic analysis of four cases of hermaphroditism]

Zhonghua Fu Chan Ke Za Zhi. 1995 May;30(5):290-3.
[Article in Chinese]

Abstract

On the basis of cytogenetics karyotype analysis, southern blot hybridization using sex-determining region of the Y chromosome (SRY) probe and amplified cation of the genomic DNA between the SRY code region by specific primers through polymerase chain reaction (PCR) have been performed in four cases of hermaphroditism. The results showed that, in 1 46, XY female and 1 45, XO/46, XY female, the SRY specific hybridization band and PCR amplified band could not be detected; in 1 46, XX male, the specific hybridization and PCR band showed SRY gene as in normal male; in another true hermaphrodite, the karyotype is 46, XX/47,XXY, PCR band is detectable but not hybridization band. The mechanism of the abnormal sex differentiation of the cases was analyzed and the two detection methods were compared.

Publication types

  • Case Reports
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blotting, Southern
  • Disorders of Sex Development / diagnosis
  • Disorders of Sex Development / genetics*
  • Female
  • Genes
  • Gonadal Dysgenesis, 46,XY / diagnosis
  • Gonadal Dysgenesis, 46,XY / genetics
  • Humans
  • Karyotyping
  • Male
  • Polymerase Chain Reaction
  • Turner Syndrome / diagnosis
  • Turner Syndrome / genetics