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Case Reports in Genetics
Volume 2011, Article ID 898706, 5 pages
http://dx.doi.org/10.1155/2011/898706
Case Report

Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

1Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand
2Northern Regional Genetic Service, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand
3Maternité Andrea De Balmain, Centre Hospitalier du Taaone, BP 1640, 98 713 Papeete, Polynésie Française, France
4School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand

Received 24 June 2011; Accepted 21 July 2011

Academic Editors: D. J. Bunyan, P. D. Cotter, and G. Velagaleti

Copyright © 2011 Rachel O'Connor 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

This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenomenon, and fine mapping of the involved region, as described here, is only a first step on the path to its full understanding. Overexpression of the LINGO-1 and CSPG4 genes has been implicated in developmental delay seen in other patients with trisomy of 15q24-qter, but our patient is currently too young to ascertain developmental progress. The genetic underpinning of Ebstein anomaly and the skeletal anomaly reported here is unclear based on our high-resolution dosage mapping.