How to cite this article: Blyth M, Beal S, Huang S, Crolla J, Foulds N 2008. A novel 2.43 Mb deletion of 7q11.22–q11.23. Am J Med Genet Part A 146A:3206–3210.
A novel 2.43 Mb deletion of 7q11.22–q11.23†
Article first published online: 14 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 24, pages 3206–3210, 15 December 2008
How to Cite
Blyth, M., Beal, S., Huang, S., Crolla, J. and Foulds, N. (2008), A novel 2.43 Mb deletion of 7q11.22–q11.23. Am. J. Med. Genet., 146A: 3206–3210. doi: 10.1002/ajmg.a.32584
- Issue published online: 21 NOV 2008
- Article first published online: 14 NOV 2008
- Manuscript Accepted: 29 SEP 2008
- Manuscript Received: 16 JUL 2008
- Williams syndrome;
- chromosome deletion 7q11.22–q11.23;
- array CGH
We present a patient with a novel heterozygous deletion of 7q11.22–q11.23. Standard cytogenetic analysis using the ELN cosmid 82C and the ELN/ LIMK1 cosmid 34B FISH probes suggested a diagnosis of Williams syndrome. Although he has supravalvular aortic stenosis and peripheral pulmonary artery stenosis, which are common in this condition, he does not have the clinical gestalt of Williams syndrome. 44k oligo array CGH analysis showed a 2.43 Mb deletion, encompassing the proximal 1.43 kb of the Williams syndrome critical region and extending approximately 1 Mb beyond it. The deletion of further genes outside the Williams syndrome critical region does not appear to be having a phenotypic effect at present. © 2008 Wiley-Liss, Inc.