- About this Journal
- Abstracting and Indexing
- Aims and Scope
- Annual Issues
- Article Processing Charges
- Articles in Press
- Author Guidelines
- Bibliographic Information
- Citations to this Journal
- Contact Information
- Editorial Board
- Editorial Workflow
- Free eTOC Alerts
- Publication Ethics
- Reviewers Acknowledgment
- Submit a Manuscript
- Subscription Information
- Table of Contents
BioMed Research International
Volume 2013 (2013), Article ID 209204, 8 pages
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.
- A. Battaglia, T. Filippi, and J. C. Carey, “Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision,” American Journal of Medical Genetics C, vol. 148, no. 4, pp. 246–251, 2008.
- S. T. South, H. Whitby, A. Battaglia, J. C. Carey, and A. R. Brothman, “Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations,” European Journal of Human Genetics, vol. 16, no. 1, pp. 45–52, 2008.
- A. Battaglia, J. C. Carey, S. T. South, and T. J. Wright, “Wolf Hirschhorn syndrome,” in GeneReviews [Internet], R. A. Pagon, T. D. Bird, C. R. Dolan, and K. Stephens, Eds., Seattle University of Washington, Seattle, Wash, USA, 2007.
- N. M. C. Maas, G. Van Buggenhout, F. Hannes, et al., “Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH),” Journal of Medical Genetics, vol. 45, no. 2, pp. 71–80, 2008.
- M. Zollino, M. Murdolo, G. Marangi et al., “On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review,” American Journal of Medical Genetics C, vol. 148, no. 4, pp. 257–269, 2008.
- D. Wieczorek, M. Krause, F. Majewski et al., “Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS) ,” Journal of Medical Genetics, vol. 37, no. 10, pp. 798–804, 2000.
- J. B. Ravnan, J. H. Tepperberg, P. Papenhausen et al., “Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities,” Journal of Medical Genetics, vol. 43, no. 6, pp. 478–489, 2006.
- S. T. South, H. Whitby, T. Maxwell, E. Aston, A. R. Brothman, and J. C. Carey, “Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype,” American Journal of Medical Genetics A, vol. 146, no. 20, pp. 2691–2697, 2008.
- Z. Ou, P. Stankiewicz, Z. Xia et al., “Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes,” Genome Research, vol. 21, no. 1, pp. 33–46, 2011.
- L. Wu, D. Meng, Z. Zhou, J. Du, Z. Long, and D. Liang, “A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation,” American Journal of Medical Genetics A, vol. 155, no. 3, pp. 656–659, 2011.
- M. Zollino, R. Lecce, R. Fischetto et al., “Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2,” American Journal of Human Genetics, vol. 72, no. 3, pp. 590–597, 2003.
- H. Engbers, J. J. van der Smagt, R. van't Slot, J. R. Vermeesch, R. Hochstenbach, and M. Poot, “Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions,” European Journal of Human Genetics, vol. 17, no. 1, pp. 129–132, 2009.
- M. Zollino, R. Lecce, A. Selicorni et al., “A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome,” European Journal of Human Genetics, vol. 12, no. 10, pp. 797–804, 2004.
- S. H. L. Kang, C. Shaw, Z. Ou et al., “Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results,” American Journal of Medical Genetics A, vol. 152, no. 5, pp. 1111–1126, 2010.
- N. J. Neill, B. C. Ballif, A. N. Lamb et al., “Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH,” Genome Research, vol. 21, no. 4, pp. 535–544, 2011.
- B. A. Nowakowska, N. de Leeuw, C. A. Ruivenkamp, et al., “Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies,” European Journal of Human Genetics, vol. 20, no. 2, pp. 166–170, 2012.
- J. O. Van Hemel and H. J. Eussen, “Interchromosomal insertions: identification of five cases and a review,” Human Genetics, vol. 107, no. 5, pp. 415–432, 2000.
- A. Nmeth, A. Conesa, J. Santoyo-Lopez, et al., “Initial genomics of the human nucleolus,” PloS Genetics, vol. 6, no. 3, article e1000899, 2010.
- S. Van Koningsbruggen, M. Gierliński, P. Schofield et al., “High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoli,” Molecular Biology of the Cell, vol. 21, no. 21, pp. 3735–3748, 2010.
- D. Liang, Z. Zhou, D. Meng, et al., “Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p,” Birth Defects Research A, vol. 94, no. 7, pp. 549–552, 2012.
- J. Goodship, A. Curtis, I. Cross et al., “A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation,” Journal of Medical Genetics, vol. 29, no. 7, pp. 451–454, 1992.
- E. Reid, N. Morrison, L. Barron et al., “Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study,” Journal of Medical Genetics, vol. 33, no. 3, pp. 197–202, 1996.
- F. Faravelli, M. Murdolo, G. Marangi, F. D. Bricarelli, M. D. Rocco, and M. Zollino, “Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes,” American Journal of Medical Genetics A, vol. 143, no. 11, pp. 1169–1173, 2007.