Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

Deletions in region 22q11.2 usually occur between two low copy repeat regions (LCRs), which are preferred chromosome sites for rearrangements. Most of the deletions encompass the same similar to 3 or similar to 1.5 Mb region, with breakpoints at LCR A and D or at LCR A and B, respectively. We report on a patient with clinical features of the 22q deletion syndrome who presents a novel, atypical deletion, smaller than 1.5 Mb, with distal breakpoint in LCR B and proximal breakpoint within no known LCR site. (C) 2008 Elsevier Masson SAS. All rights reserved.Universidade Federal de São Paulo, Dept Morfol & Genet, BR-04023900 São Paulo, BrazilChildrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAUniv Penn, Sch Med, Philadelphia, PA 19104 USAUniversidade Federal de São Paulo, Ctr Genet Med, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Morfol & Genet, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, Ctr Genet Med, BR-04023900 São Paulo, BrazilWeb of Scienc