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Case Reports in Genetics
Volume 2012 (2012), Article ID 878796, 5 pages
Case Report

Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports

1FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India
2Sahyadri Medical Genetics and Tissue Engineering Facility, 1170/01, Barve Memorial Complex, J.M. Road, Pune 411005, India

Received 20 September 2012; Accepted 24 October 2012

Academic Editors: C. López Ginés and H. A. Stirnadel

Copyright © 2012 F. 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.


The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16 pter) was detected in Case 1 with full blown features of WHS. The second case which had an interstitial microdeletion encompassing WHSC 1 and WHSC 2 genes at 4p16.3 presented with less striking clinical features of WHS and had an apparently “normal” karyotype. The severity of the clinical presentation was as a result of haploinsufficiency and interaction with surrounding genes as well as mutations in modifier genes located outside the WHSCR regions. The study emphasized that an individual with a strong clinical suspicion of chromosomal abnormality and a normal conventional cytogenetic study should be further investigated using molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) or array-comparative genomic hybridization (a-CGH).