A 46,XY female with mixed gonadal dysgenesis and a 48,XY, +7, +i(12p) chromosome pattern in a primary gonadal tumor

Cancer Genet Cytogenet. 1991 Dec;57(2):219-24. doi: 10.1016/0165-4608(91)90155-n.

Abstract

Cytogenetic analysis of a primary germ-cell tumor originating from the streak gonad of a 20-year-old phenotypic female with a 46,XY karyotype and mixed gonadal dysgenesis revealed a 48,XY, +7, +i(12p) chromosomal pattern. Germ-cell tumors originating from gonads of normal males are usually highly aneuploid. An isochromosome 12p as well as an overrepresentation of chromosome 7 material are among the specific changes most consistently observed. The present case shows that tumors of dysgenetic gonads, albeit being near-diploid, may exhibit similar chromosomal changes. This observation lends additional support to the hypothesis that these specific cytogenetic anomalies may play an important role in the pathogenesis of human germ-cell tumors.

Publication types

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

MeSH terms

  • Adult
  • Chromosome Aberrations / pathology*
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosomes, Human, Pair 12
  • Chromosomes, Human, Pair 7
  • DNA Probes
  • Female
  • Genital Neoplasms, Female / pathology*
  • Gonadal Dysgenesis / pathology*
  • Humans
  • Karyotyping
  • Nucleic Acid Hybridization
  • Sex Chromosome Aberrations / pathology*

Substances

  • DNA Probes