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J Med Genet 1993;30:918-922 doi:10.1136/jmg.30.11.918
  • Research Article

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

  1. T Ogata,
  2. C Tyler-Smith,
  3. S Purvis-Smith,
  4. G Turner
  1. Human Molecular Genetics Laboratory, Imperial Cancer Research Fund, London, UK.

      Abstract

      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.

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