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Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum |
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| Authors: | Nogueira Sintia Iole Hacker April M Bellucco Fernanda T S Christofolini Denise M Kulikowski Leslie Domenici Cernach Mirlene C S P Emanuel Beverly S Melaragno Maria Isabel |
| Affiliation: | aDisciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo, Rua Botucatu 740, São Paulo, SP 04023-900, Brazil bDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA cThe University of Pennsylvania School of Medicine, Philadelphia, PA, USA dCentro de Genética Médica, Universidade Federal de São Paulo, São Paulo, SP, Brazil |
| Abstract: | 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 3 or 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. |
| Keywords: | 22q11.2 Deletion Atypical deletion FISH |
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