title: Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.
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 approximately 3 or approximately 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.
authors.affiliation: Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo, Rua Botucatu 740, São Paulo, SP 04023-900, Brazil. sintia.morf@epm.br <sintia.morf@epm.br>
authors.forename: Sintia Iole
authors.initials: SI
authors.lastname: Nogueira
authors.forename: April M
authors.initials: AM
authors.lastname: Hacker
authors.forename: Fernanda T S
authors.initials: FT
authors.lastname: Bellucco
authors.forename: Denise M
authors.initials: DM
authors.lastname: Christofolini
authors.forename: Leslie Domenici
authors.initials: LD
authors.lastname: Kulikowski
authors.forename: Mirlene C S P
authors.initials: MC
authors.lastname: Cernach
authors.forename: Beverly S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Melaragno
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence