对一名患有X连锁少汗性外胚层发育不良且伴有X；常染色体平衡易位的表型女性的细胞系进行识别和重新分析。
Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.
作者信息
Zonana J, Roberts S H, Thomas N S, Harper P S
机构信息
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
出版信息
J Med Genet. 1988 Jun;25(6):383-6. doi: 10.1136/jmg.25.6.383.
We have restudied a fibroblast cell line from a female with marked manifestations of X linked hypohidrotic ectodermal dysplasia (HED) and a balanced X;9 translocation. Chromosome analysis showed a karyotype of 46,X,t(X;9)(q13.1;p24) with an Xq breakpoint distal to the one previously reported. The significance of the cell line, previously unrecognised, for the mapping and eventual cloning of the HED locus is discussed.
我们对一名患有明显X连锁少汗性外胚层发育不良（HED）且有平衡的X;9易位的女性的成纤维细胞系进行了重新研究。染色体分析显示核型为46,X,t(X;9)(q13.1;p24)，Xq断点位于先前报道的断点远端。讨论了该先前未被识别的细胞系对于HED基因座定位及最终克隆的意义。
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