1. Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.
- Author
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Nogueira SI, Hacker AM, Bellucco FT, Christofolini DM, Kulikowski LD, Cernach MC, Emanuel BS, and Melaragno MI
- Subjects
- Child, Female, Humans, In Situ Hybridization, Fluorescence, Chromosome Deletion, Chromosomes, Human, Pair 22, DiGeorge Syndrome genetics
- 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.
- Published
- 2008
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