Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe

Molecular Cytogenetics

Lucy R Osborne³  Carolyn B Mervis¹  Colleen A Morris² 

[1] Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky, USA;Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada, USA;Departments of Medicine and Molecular Genetics, University of Toronto, Toronto, Ontario, Canada

Others  :  1159808
DOI  :  10.1186/1755-8166-4-7

 received in 2011-01-11, accepted in 2011-02-28,  发布年份 2011

【 摘 要 】

Inversion of the Williams syndrome (WS) region on chromosome 7q11.23 has previously been shown to occur at a higher frequency in the transmitting parents of children with WS than in the general population, suggesting that it predisposes to the WS deletion. Frohnauer et al. recently reported that the frequency of this inversion is not elevated in the parents of children with WS in Germany relative to the German general population. We have compared Frohnauer et al.'s data to those from three previously published studies (Hobart et al., Bayes et al., Osborne et al.), all of which reported a significantly higher rate of 7q11.23 inversion in transmitting parents than in the general population. Results indicated that Frohnauer et al.'s data are consistent with previously reported frequencies of 7q11.23 inversion in North America and Spain in both transmitting parents and the general population.

【 授权许可】

   
2011 Morris et al; licensee BioMed Central Ltd.

【 参考文献 】

• [1]Frohnauer J, Caliebe A, Gesk S, Partsch CJ, Siebert R, Pankau R, Jenderny J: No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control. Mol Cytogenet 2010, 3:21. BioMed Central Full Text
• [2]Schubert C: The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci 2009, 66:1178-1197.
• [3]Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR: The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms. Am J Med Genet A 2008, 146A:1797-1806.
• [4]Hobart HH, Morris CA, Mervis CB, Pani AM, Kistler DJ, Rios CM, Kimberley KW, Gregg RG, Bray-Ward P: Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. Am J Med Genet C Semin Med Genet 2010, 154C:220-228.
• [5]Bayés M, Magano LF, Rivera N, Flores R, Pérez Jurado LA: Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet 2003, 73:131-151.
• [6]Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW: A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 2001, 29:321-325.