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Case Reports in Genetics
Volume 2012, Article ID 153405, 4 pages
http://dx.doi.org/10.1155/2012/153405
Case Report

Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

1FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380 015, India
2Critical Neonatal & Child Care Centre, Aakar Complex, Sir T Hospital, Kalanala, Jail Road, Bhavnagar 364 001, India
3Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany

Received 25 October 2012; Accepted 23 November 2012

Academic Editors: D. J. Bunyan, E. Ergul, and M. Fenger

Copyright © 2012 Frenny Sheth 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

Here, we present a case with an unusual chromosomal rearrangement in a child with a predominant phenotype of high-pitched crying showing deletion encompassing CTNND2 due to an unbalanced translocation of chromosomes 4 and 5. This rearrangement led to a duplication of ~35 Mb in 4qter which replaced 18 Mb genetic materials in 5pter. Even though, in this patient, there was no clinically obvious modification to the classical phenotypes of CdCS, and the influence of the 4q-duplication cannot be completely excluded in this case. However, the region 4q34.1–34.3 was previously reported as a region not leading to phenotypic changes if present in three copies, an observation which could possibly be supported by this case. Conclusion. This study showed that in a patient with an unbalanced translocation resulting in 5p deletion, the presence of partial trisomy of chromosome 4q could be clinically insignificant.