Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Genetics
Volume 2012, Article ID 153405, 4 pages
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.

Linked References

  1. M. P. Cerruti, G. Pastore, C. Castronovo, M. Godi, A. Guala, S. Tamiazzo et al., “The natural history of Cri du chat syndrome. A report from the Italian register,” European Journal of Medical Genetics, vol. 49, no. 5, pp. 363–383, 2006. View at Publisher · View at Google Scholar
  2. L. G. Shaffer, M. L. Slovak, and J. C. Lynda, An International System for Human Cytogenetic Nomenculature, Karger Press, Basel, Switzerland, 2009.
  3. T. Liehr, A. Heller, H. Starke et al., “Microdissection based high resolution multicolor banding for all 24 human chromosomes,” International Journal of Molecular Medicine, vol. 9, no. 4, pp. 335–339, 2002. View at Google Scholar · View at Scopus
  4. P. M. Cerruti, C. Perfumo, A. Cali, G. Coucourde, G. Pastore, S. Cavani et al., “Clinical and molecular characterization of 80 patients with 5p deletions, genotype and phenotype correlation,” Journal of Medical Genetics, vol. 38, no. 3, pp. 151–158, 2001. View at Publisher · View at Google Scholar
  5. H. Elghezal, H. S. Sendi, K. Monastiri et al., “Large duplication 4q25-q34 with mild clinical effect,” Annales de Genetique, vol. 47, no. 4, pp. 419–422, 2004. View at Publisher · View at Google Scholar · View at Scopus
  6. R. Rinaldi, C. de Bernardo, M. Assumma et al., “Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype,” American Journal of Medical Genetics A, vol. 118, no. 2, pp. 122–126, 2003. View at Google Scholar
  7. E. Hubert, A. Sawicka, E. Wasilewska, and A. T. Midro, “Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo,” Genetic Counseling, vol. 17, no. 2, pp. 211–218, 2006. View at Google Scholar · View at Scopus
  8. K. Kristensen, T. Hjuer, H. Ravn, E. A. Simoes, and L. G. Stensballe, “Chronic diseases, chromosomal abnormalities, and congenital malformations as risks factors for respiratory syncytial virus hospitalization: a population-based cohort study,” Clinical Infectious Diseases, vol. 54, no. 6, pp. 810–817, 2012. View at Publisher · View at Google Scholar
  9. M. Bateman, S. Mehta, L. Willatt, L. Sparnon, E. Selkirk, C. Bedwell et al., “A de novo 4q34 interstitial deletion of 9–11 Mb with no discernible phenotypic effect,” Journal of Medical Genetics, vol. 143, pp. 343–348, 2007. View at Google Scholar