PT  - JOURNAL ARTICLE
AU  - T Ogata
AU  - C Tyler-Smith
AU  - S Purvis-Smith
AU  - G Turner
TI  - Chromosomal localisation of a gene(s) for Turner stigmata on Yp.
AID  - 10.1136/jmg.30.11.918
DP  - 1993 Nov 01
TA  - Journal of Medical Genetics
PG  - 918--922
VI  - 30
IP  - 11
4099  - http://jmg.bmj.com/content/30/11/918.short
4100  - http://jmg.bmj.com/content/30/11/918.full
SO  - J Med Genet1993 Nov 01; 30
AB  - 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.