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- Title
Chromosomal localisation of a gene(s) for Turner stigmata on Yp.
- Authors
Ogata, T; Tyler-Smith, C; Purvis-Smith, S; Turner, G
- 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.
- Publication
Journal of medical genetics, 1993, Vol 30, Issue 11, p918
- ISSN
0022-2593
- Publication type
Journal Article
- DOI
10.1136/jmg.30.11.918