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 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.
Nogueira
Sintia Iole
SI
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>
Hacker
April M
AM
Bellucco
Fernanda T S
FT
Christofolini
Denise M
DM
Kulikowski
Leslie Domenici
LD
Cernach
Mirlene C S P
MC
Emanuel
Beverly S
BS
Melaragno
Maria Isabel
MI
D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence