染色体缺失与多发性骨软骨瘤
Chromosome deletion and multiple cartilaginous exostoses.
作者信息
Bühler E M, Bühler U K, Stalder G R, Jani L, Jurik L P
出版信息
Eur J Pediatr. 1980 Mar;133(2):163-6. doi: 10.1007/BF00441586.
PMID:6965910
Abstract
We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases of the TRP II previously thought to have had normal chromosomes.
摘要
我们报告了一名13岁女孩，其临床表现与毛发-鼻-指（趾）综合征II型（TRP II）或朗格-吉迪恩综合征极为相似。在未证实其他病因之前，必须假定8号染色体长臂末端缺失是导致她患病的原因。对于之前认为染色体正常的TRP II其他病例，应（盲目地）查找是否存在类似的染色体异常。
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