期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 51, 期 3, 页码 226-230出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2008.02.001
关键词
22q11.2 deletion; atypical deletion; FISH
资金
- NCI NIH HHS [R01 CA039926-20, CA39926, R01 CA039926] Funding Source: Medline
- NIDCD NIH HHS [P01 DC002027, DC02027] Funding Source: Medline
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 similar to 3 or similar to 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. (C) 2008 Elsevier Masson SAS. All rights reserved.
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