- About this Journal
- Abstracting and Indexing
- Aims and Scope
- 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
- Submit a Manuscript
- Subscription Information
- Table of Contents
Case Reports in Pediatrics
Volume 2012 (2012), Article ID 846564, 5 pages
A Rare Chromosome 3 Imbalance and Its Clinical Implications
1Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand
2Genetic Health Service of New Zealand-Northern Hub, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand
3School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand
Received 27 July 2012; Accepted 9 September 2012
Academic Editors: A. W. Kamps and D. I. Zafeiriou
Copyright © 2012 Karen Sims 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.
- D. T. Miller, M. P. Adam, S. Aradhya et al., “Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies,” American Journal of Human Genetics, vol. 86, no. 5, pp. 749–764, 2010.
- A. Schinzel, Catalogue of Unbalanced Chromosome Aberrations in Man, De Gruyter, Berlin, Germany, 2nd edition, 2001.
- M. S. Aqua, P. Rizzu, E. A. Lindsay et al., “Duplication 3q syndrome: molecular delineation of the critical region,” American Journal of Medical Genetics, vol. 55, no. 1, pp. 33–37, 1995.
- U. Schwyzer, F. Binkert, U. Caflisch, B. Baumgartner, and A. Schinzel, “Terminal deletion of the short arm of chromosome 3, del(3pter-p25): a recognizable syndrome,” Helvetica Paediatrica Acta, vol. 42, no. 4, pp. 309–315, 1987.
- T. Drumheller, B. C. McGillivray, D. Behrner et al., “Precise localisation of 3p25 breakpoints in four patients with the 3p− syndrome,” Journal of Medical Genetics, vol. 33, no. 10, pp. 842–847, 1996.
- E. K. Green, M. D. Priestley, J. Waters, C. Maliszewska, F. Latif, and E. R. Maher, “Detailed mapping of a congenital heart disease gene in chromosome 3p25,” Journal of Medical Genetics, vol. 37, no. 8, pp. 581–587, 2000.
- A. J. Van Essen, K. Kok, A. Van Den Berg et al., “Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28,” Human Genetics, vol. 87, no. 2, pp. 151–154, 1991.
- S. G. M. Frints, P. Marynen, D. Hartmann et al., “CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior,” Human Molecular Genetics, vol. 12, no. 13, pp. 1463–1474, 2003.
- S. Shuib, D. McMullan, E. Rattenberry et al., “Microarray based analysis of 3p25-p26 deletions (3p− syndrome),” American Journal of Medical Genetics, Part A, vol. 149, no. 10, pp. 2099–2105, 2009.
- C. Cuoco, P. Ronchetto, S. Gimelli et al., “Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children,” Orphanet Journal of Rare Diseases, vol. 6, no. 1, article 12, 2011.
- H. Nienhaus, U. Mau, and K. D. Zang, “Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases,” American Journal of Medical Genetics, vol. 44, no. 5, pp. 573–575, 1992.
- S. Kariya, K. Aoji, H. Akagi et al., “A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del (3) (p25-pter); a case report and literature review,” International Journal of Pediatric Otorhinolaryngology, vol. 56, no. 1, pp. 71–78, 2000.
- C. B. Cargile, D. L. M. Goh, B. K. Goodman et al., “Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome,” American Journal of Medical Genetics, vol. 109, no. 2, pp. 133–138, 2002.
- C. Gunnarsson and C. Foyn Bruun, “Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1,” American Journal of Medical Genetics, Part A, vol. 152, no. 12, pp. 3110–3114, 2010.
- K. Narahara, K. Kikkawa, M. Murakami et al., “Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3,” American Journal of Medical Genetics, vol. 35, no. 2, pp. 269–273, 1990.
- H. Malmgren, S. Sahlén, K. Wide, M. Lundvall, and E. Blennow, “Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review,” American Journal of Medical Genetics Part A, vol. 143, no. 18, pp. 2143–2149, 2007.
- B. J. McCullough, J. C. Adams, D. J. Shilling, M. P. Feeney, K. C. Y. Sie, and B. L. Tempel, “3p− syndrome defines a hearing loss locus in 3p25.3,” Hearing Research, vol. 224, no. 1-2, pp. 51–60, 2007.
- J. Carayol, R. Sacco, F. Tores et al., “Converging evidence for an association of ATP2B2 allelic variants with autism in male subjects,” Biological Psychiatry, vol. 170, no. 9, pp. 880–887, 2011.
- T. Fernandez, T. Morgan, N. Davis et al., “Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome,” American Journal of Human Genetics, vol. 74, no. 6, pp. 1286–1293, 2004.