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Eur J Med Genet. 2008 May-Jun;51(3):226-30. doi: 10.1016/j.ejmg.2008.02.001. Epub 2008 Feb 8.

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

Author information

1
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>

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.

PMID:
18342595
PMCID:
PMC2810959
DOI:
10.1016/j.ejmg.2008.02.001
[Indexed for MEDLINE]
Free PMC Article

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