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BioMed Research International
Volume 2013 (2013), Article ID 209204, 8 pages
http://dx.doi.org/10.1155/2013/209204
Research Article

Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

1Servicio de Genética, Hospital General de México, Dr. Balmis No. 148, Colonia Doctores, 06726 México, DF, Mexico
2Facultad de Medicina, Universidad Nacional Autónoma de México, México, DF, Mexico
3Departamento de Medicina Genómica, Hospital General de México, Dr. Balmis No. 148, Colonia, Doctores, 06726 México, DF, Mexico

Received 26 October 2012; Accepted 13 December 2012

Academic Editor: Ozgur Cogulu

Copyright © 2013 Carlos A. Venegas-Vega 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

The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS) phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV) analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb). Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling.