CHROMOSOMAL LOCALIZATION OF A GENE(S) FOR TURNER STIGMATA ON YP

被引:39
作者
OGATA, T
TYLERSMITH, C
PURVISSMITH, S
TURNER, G
机构
[1] IMPERIAL CANC RES FUND,HUMAN MOLEC GENET LAB,LONDON WC2A 3PX,ENGLAND
[2] UNIV OXFORD,DEPT BIOCHEM,CRC,CHROMOSOME MOLEC BIOL GRP,OXFORD,ENGLAND
[3] PRINCE WALES CHILDRENS HOSP,DEPT MED GENET,CYTOGENET UNIT,RANDWICK,AUSTRALIA
关键词
D O I
10.1136/jmg.30.11.918
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:918 / 922
页数:5
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