title: Chromosomal localisation of a gene(s) for Turner stigmata on Yp.
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.
authors.affiliation: Human Molecular Genetics Laboratory, Imperial Cancer Research Fund, London, UK.
authors.forename: T
authors.initials: T
authors.lastname: Ogata
authors.forename: C
authors.initials: C
authors.lastname: Tyler-Smith
authors.forename: S
authors.initials: S
authors.lastname: Purvis-Smith
authors.forename: G
authors.initials: G
authors.lastname: Turner
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology; D004303:Dosage Compensation, Genetic; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D051741:Kruppel-Like Transcription Factors; D008297:Male; D008540:Meiosis; D010641:Phenotype; D014157:Transcription Factors; D014998:Y Chromosome
chemical_list: D004268:DNA-Binding Proteins; D005819:Genetic Markers; D051741:Kruppel-Like Transcription Factors; D014157:Transcription Factors; C062076:zinc finger protein, X-linked