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Interstitial deletion of chromosome 2p16.2p21
S R Sanders1, A J Dawson, A Vust
1Section of Genetics and Metabolism, Department of Pediatrics, Child Health, Health Sciences Centre, University of Manitoba, Winnipeg, Manitoba, Canada. srsanders@hsc.mb.ca
Clinical Dysmorphology
|October 18, 2003
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.