关于毛发-鼻-指（趾）综合征的最后一点说明。
A final word on the tricho-rhino-phalangeal syndromes.
作者信息
Bühler E M, Bühler U K, Beutler C, Fessler R
出版信息
Clin Genet. 1987 Apr;31(4):273-5. doi: 10.1111/j.1399-0004.1987.tb02806.x.
Abstract
Chromosomal findings in the majority of cases of TRP II (or Langer-Giedion) syndrome and in some cases of TRP I syndrome lead to the conclusion that the former is due to a deletion extending from 8q24.11 to 8q24.13 whereas the latter is caused by an even smaller deleted segment, namely 8q24.12. A case of tricho-rhino-phalangeal syndrome type I with a mosaic deletion of band 8q24.12 is described.
摘要
大多数毛发鼻指综合征II型（或朗格-吉迪恩综合征）病例以及部分毛发鼻指综合征I型病例的染色体检查结果表明，前者是由8q24.11至8q24.13的缺失所致，而后者则是由一个更小的缺失片段即8q24.12引起的。本文描述了一例I型毛发鼻指综合征患者，其8q24.12带存在嵌合缺失。
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