Disclosure: None of the authors has any conflict of interest to disclose.
Article first published 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 published online: 19 MAR 2013
- Article first published 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
Additional Supporting Information may be found in the online version of this article.
|ajmg_35768_sm_SuppFigS1.tif||5325K||eFig. S1: Cytogenetic analyses using FISH. A. Deletion of 2q23.1 based on the absence of green signals (RP11-153N11) in 1 homologue of chromosome 2 marked with orange signals (RP11-664N22), suggesting that this is a derivative chromosome (arrow). B. Translocation of 2q36.3 onto chromosome 5 as shown by 1 of the green 2q36.3-specific signals (RP11-321A11) on chromosome 5 marked with orange signal (RP11-78J2) (arrow). C. No translocation of 5q21.3, as shown by the presence of 2 green 5q21.3-specific signals (RP11-833E8) on chromosome 5 marked with orange signals (RP11-78J2). D. Translocation of 5q21.3 onto another chromosome, as shown by 1 of the green 5q21.3-specific signals (RP11-632D9) not on chromosome 5 marked with orange signal (RP11-78J2) (arrow).|
|ajmg_35768_sm_SuppFigS2.tif||1977K||eFig. S2: Physical map around 5q21.3. Physical map around 5q21.3 in which breakpoint of chromosomal rearrangement is located. Because only RP-632D9 is located on 2q23, breakpoint of this region is determined to be between RP11-632D9 and RP11-833E8. arrows, the locations and the directions of the genes; rectangles, BAC clones used for FISH analyses.|
|ajmg_35768_sm_SuppTables.doc||33K||Supporting Information Tables|
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