How to cite this article: Gimelli S, Chrast J, Baban A, Henrichsen CN, Lerone M, Zuffardi O, Gimelli G, Reymond A. 2010. A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes. Am J Med Genet Part A 152A:1285–1294.
A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes†
Article first published online: 13 APR 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 5, pages 1285–1294, May 2010
How to Cite
Gimelli, S., Chrast, J., Baban, A., Henrichsen, C. N., Lerone, M., Zuffardi, O., Gimelli, G. and Reymond, A. (2010), A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes. Am. J. Med. Genet., 152A: 1285–1294. doi: 10.1002/ajmg.a.33365
- Issue published online: 22 APR 2010
- Article first published online: 13 APR 2010
- Manuscript Accepted: 19 JAN 2010
- Manuscript Received: 25 MAY 2009
- Telethon Action Suisse Foundation
- The Jérôme Lejeune Foundation
- The Swiss National Science Foundation
- The European Commission anEUploidy Integrated Project. Grant Number: 037627
- Williams–Beuren syndrome;
- 12q14 microdeletion syndrome;
- position effect;
- chromosome rearrangement
The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying disease-causing genes. Here, we describe the breakpoint mapping of a de novo balanced translocation t(7;12)(q11.22;q14.2) in a patient presenting with a failure to thrive associated with moderate mental retardation, facial anomalies, and chronic constipation. The localization of the breakpoints and the co-occurrence of Williams–Beuren syndrome and 12q14 microdeletion syndrome phenotypes suggested that the expression of some of the dosage-sensitive genes of these two segmental aneuploidies were modified in cells of the proposita. However, we were unable to identify chromosomes 7 and/or 12-mapping genes that showed disturbed expression in the lymphoblastoids of the proposita. This case showed that position-effect might operate in some tissues, but not in others. It also illustrates the overlap of phenotypes presented by patients with the recently described 12q14 structural rearrangements. © 2010 Wiley-Liss, Inc.