Disclosure: None of the authors has any conflict of interest to disclose.
Version of Record online: 12 MAR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 4, pages 850–855, April 2013
How to Cite
Shichiji, M., Ito, Y., Shimojima, K., Nakamu, H., Oguni, H., Osawa, M. and Yamamoto, T. (2013), A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. Am. J. Med. Genet., 161: 850–855. doi: 10.1002/ajmg.a.35768
How to Cite this Article: Shichiji M, Ito Y, Shimojima K, Nakamu H, Oguni H, Osawa M, Yamamoto T. 2013. A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. Am J Med Genet Part A 161A:850–855
- Issue online: 19 MAR 2013
- Version of Record online: 12 MAR 2013
- Manuscript Accepted: 13 OCT 2012
- Manuscript Received: 27 DEC 2011
- Grant-in-Aid for Scientific Research (C)
- Japan Society for the Promotion of Science
- 2q23.1 deletion syndrome;
- methyl-CpG-binding domain 5 gene (MBD5);
- cryptic deletion
The 2q23.1 deletion syndrome has been recently recognized as a neurodevelopmental disorder associated with intellectual disability, epilepsy, and autism spectrum disorder. Recently, methyl-CpG-binding domain 5 gene (MBD5), located in the 2q23.1 region, has been considered as a single causative gene of this syndrome. We report on a female patient with a de novo reciprocal translocation between chromosomes 2 and 5. Chromosomal microarray testing revealed a cryptic 896 kb deletion that included MBD5. Although clinical manifestations of this patient are compatible with those of patients with 2q23.1 deletion syndrome, a focal pachygyria revealed by brain magnetic resonance imaging has never been observed in the previously reported cases. Obesity caused by hyperphagia was observed in our patient and 28% of the previously reported patients with the 2q23.1 deletion syndrome. For better medical management, appropriate dietary guidance against hyperphagia should be given to the patients' family. © 2013 Wiley Periodicals, Inc.