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Case Reports in Genetics
Volume 2011, Article ID 131768, 5 pages
http://dx.doi.org/10.1155/2011/131768
Case Report

Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis

1David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA
2Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA
3Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA
4Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, 1000 Veteran Avenue 22-26, Los Angeles, CA 90024, USA

Received 15 August 2011; Accepted 15 September 2011

Academic Editors: E. Rajcan-Separovic and A. Sazci

Copyright © 2011 Omid Kohannim 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

We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and monosomy 7p22.3. We describe the patient's clinical presentation, along with his cytogenetic analysis, and we compare the findings to those of similar case reports in the literature. We also perform a bioinformatic analysis in the chromosomal regions of segmental aneuploidy to find genes that could potentially explain the patient's phenotype.