True hermaphroditism with partial duplication of chromosome 22 and without SRY

Am J Med Genet. 1999 Jul 2;85(1):2-4. doi: 10.1002/(sici)1096-8628(19990702)85:1<2::aid-ajmg2>3.0.co;2-g.

Abstract

We present the case of a patient with true hermaphroditism and partial duplication of chromosome 22. Cytogenetic evaluation showed no evidence of a Y chromosome in blood, skin, or gonadal tissue. Additional investigations using molecular probes showed no evidence of SRY. We conclude that there are genes on chromosome 22 that are involved in sex determination.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 22*
  • DNA Primers
  • DNA-Binding Proteins / genetics*
  • Disorders of Sex Development / genetics*
  • Disorders of Sex Development / pathology
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Nuclear Proteins*
  • Sex Determination Processes
  • Sex-Determining Region Y Protein
  • Transcription Factors*

Substances

  • DNA Primers
  • DNA-Binding Proteins
  • Nuclear Proteins
  • SRY protein, human
  • Sex-Determining Region Y Protein
  • Transcription Factors