Interstitial deletion of chromosome 2p16.2p21.
作者信息
Sanders S R, Dawson A J, Vust A, Hryshko M, Tomiuk M, Riordan D, Prasad C
机构信息
Section of Genetics and Metabolism, Department of Pediatrics, Child Health, Health Sciences Centre, University of Manitoba, Winnipeg, Manitoba, Canada.
出版信息
Clin Dysmorphol. 2003 Jul;12(3):183-5. doi: 10.1097/01.mcd.0000065051.36236.e9.
Abstract
We report on a female who presents with an atrial septal defect (ASD), mild hypotelorism, a prominent nasal bridge, a long smooth philtrum, mild developmental delay and a de novo interstitial deletion of the short arm of chromosome 2p, del (2)(p16.2p21). This is the first report of a deletion in chromosome 2 involving those particular breakpoints. We propose that this may represent a new recognizable chromosomal phenotype.
摘要
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