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A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay

✍ Scribed by Keiko Shimojima; Kayoko Saito; Toshiyuki Yamamoto


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
256 KB
Volume
149A
Category
Article
ISSN
1552-4825

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## Abstract Interstitial deletions of the distal part of chromosome 2p are rare, with only six reported cases involving regions from 2p23 to 2pter. Most of these were cytogenetic investigations. We describe a 14‐year‐old boy with an 8.97 Mb deletion of 2p23.3–24.3 detected by array comparative geno

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## Abstract We describe the case of a 6‐month‐old boy with psychomotor retardation, craniofacial dysmorphism, cleft lip and palate, as well as hearing and visual impairment. Analysis of G‐banded chromosomes of the propositus showed a de novo interstitial deletion of the short arm of chromosome 12,