近端间质6q缺失：一种可识别的综合征。
Proximal interstitial 6q deletion: a recognizable syndrome.
作者信息
Kumar R, Riordan D, Dawson A J, Chudley A E
机构信息
Department of Pediatrics and Child Health, University of Manitoba and Children's Hospital, Winnipeg, Canada.
出版信息
Am J Med Genet. 1997 Aug 22;71(3):353-6.
PMID:9268108
Abstract
We report on an 8-year-old boy with a proximal interstitial deletion of the long arm of chromosome 6 with breakpoints q13 to q14.2. He has a characteristic facial appearance that is seen in several of the previously described cases. Details of his clinical course are reviewed and compared with the nine previous reported cases of the proximal deletion 6q syndrome.
摘要
我们报告了一名8岁男孩，其6号染色体长臂近端间质缺失，断点位于q13至q14.2。他具有特征性面容，这在之前描述的几例病例中也有出现。我们回顾了他的临床病程细节，并与之前报道的9例近端6q缺失综合征病例进行了比较。
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