Article
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?
American journal of medical genetics. Part A - 1 Mar 2014
Mucciolo M, Magini P, Marozza A, Mongelli P, Mencarelli M A, Hayek G, Tavalazzi F, Mari F, Seri M, Renieri A, Graziano C
Abstract excerpt
Interstitial deletions of the long arm of chromosome 9 are rare and most patients have been detected by conventional cytogenetic techniques. Disparities in size and localization are large and no consistent region of overlap has been delineated. We report two similar de novo deletions of 6.3 Mb involving the 9q31.1q31.3 region, identified in two monozygotic twins and one unrelated patient through array-CGH...
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