How to Cite this Article: Stark Z, Ryan MM, Bruno DL, Burgess T, Savarirayan R. 2010. Atypical Silver–Russell phenotype resulting from maternal uniparental disomy of chromosome 7. Am J Med Genet Part A 152A:2342–2345.
Atypical Silver–Russell phenotype resulting from maternal uniparental disomy of chromosome 7†
Article first published online: 3 AUG 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 9, pages 2342–2345, September 2010
How to Cite
Stark, Z., Ryan, M. M., Bruno, D. L., Burgess, T. and Savarirayan, R. (2010), Atypical Silver–Russell phenotype resulting from maternal uniparental disomy of chromosome 7. Am. J. Med. Genet., 152A: 2342–2345. doi: 10.1002/ajmg.a.33590
- Issue published online: 19 AUG 2010
- Article first published online: 3 AUG 2010
- Manuscript Accepted: 6 JUN 2010
- Manuscript Received: 27 JAN 2010
- Silver–Russell syndrome;
- maternal uniparental disomy;
- myoclonus–dystonia syndrome;
- SNP microarray
We report on a patient with atypical Silver–Russell phenotype comprising severe growth retardation, unusual facies, bilateral Duane anomaly and infantile hypercalcemia caused by maternal uniparental iso/heterodisomy (mUPD) of chromosome 7. The development of myoclonus in this patient lends further support to the hypothesis that abnormal imprinting of the SGCE gene is responsible for some cases of myoclonus–dystonia syndrome. This case highlights the utility of SNP microarray technology as an accessible tool for the diagnosis of mUPD7 in atypical cases. We propose that depending on the balance of iso- and heterodisomic segments in a particular patient, mUPD7 may result in a range of phenotypes not confined to classic Silver–Russell syndrome. © 2010 Wiley-Liss, Inc.