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Genetics Research International
Volume 2015 (2015), Article ID 398063, 5 pages
http://dx.doi.org/10.1155/2015/398063
Research Article

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

1Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
2Craniofacial and Cleft Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
3Department of Surgery, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
4Pediatric Surgery Department, Imam Hossein Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
5Division of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran

Received 25 July 2015; Revised 5 October 2015; Accepted 15 October 2015

Academic Editor: Norman A. Doggett

Copyright © 2015 Maryam Sedghi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize rearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed with a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6 Mb duplication is reported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature.