Chromosomal localisation of a gene(s) for Turner stigmata on Yp

J Med Genet. 1993 Nov;30(11):918-22. doi: 10.1136/jmg.30.11.918.


Although recent cytogenetic and molecular studies in patients with Turner stigmata are consistent with a gene(s) for Turner stigmata being present on both Xp and Yp, the precise location has not been determined. In this report, we describe a phenotypically female infant with Turner stigmata and a partial Yp deletion and review genotype-phenotype correlations of the putative Turner gene(s) in non-mosaic patients with Y chromosome rearrangements resulting from chromosomal breakage at Yp or Yc (pericentromeric region). The results indicate that the putative Turner gene(s) on Yp is located in the Y specific region from interval 1A1A to interval 2B. In addition, assessment of ZFX/ZFY and RPS4X/RPS4Y in the context of the Turner gene(s) suggests that ZFX/ZFY rather than RPS4X/RPS4Y could be a candidate gene for the Turner stigmata.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosome Deletion*
  • Chromosome Mapping
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / physiology
  • Dosage Compensation, Genetic
  • Genetic Markers
  • Genotype
  • Humans
  • Infant, Newborn
  • Kruppel-Like Transcription Factors
  • Male
  • Meiosis
  • Phenotype
  • Transcription Factors
  • Y Chromosome*


  • DNA-Binding Proteins
  • Genetic Markers
  • Kruppel-Like Transcription Factors
  • Transcription Factors
  • zinc finger protein, X-linked