A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay
β 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 14βyearβold boy with an 8.97βMb deletion of 2p23.3β24.3 detected by array comparative geno
## Abstract We describe the case of a 6βmonthβold boy with psychomotor retardation, craniofacial dysmorphism, cleft lip and palate, as well as hearing and visual impairment. Analysis of Gβbanded chromosomes of the propositus showed a de novo interstitial deletion of the short arm of chromosome 12,