RT Journal Article
SR Electronic
T1 Chromosomal localisation of a gene(s) for Turner stigmata on Yp.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 918
OP 922
DO 10.1136/jmg.30.11.918
VO 30
IS 11
A1 Ogata, T
A1 Tyler-Smith, C
A1 Purvis-Smith, S
A1 Turner, G
YR 1993
UL http://jmg.bmj.com/content/30/11/918.abstract
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.