期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 143A, 期 2, 页码 172-178出版社
WILEY
DOI: 10.1002/ajmg.a.31541
关键词
array CGH; del(15)(q14); cleft palate; atrial septal defect; mental retardation
High-resolution array CGH utilizing sets of overlapping BAC and PAC clones (tiling path) covering the whole genome is a powerful novel tool for fast detection of submicroscopic chromosome deletions or duplications. We describe the successful application of a Submegbase resolution whole genome tiling path BAC array to confirm and characterize a de novo interstitial deletion of chromosome 15. The deletion has a size of 5.3 Mb and is located within chromosome hand 15q14, distal to the Prader-Willi/Angelman region. The affected girl had a heart defect, cleft palate, recurrent infections, and developmental delay. In contrast to GTG banding, array CGH determined the exact number of deleted genes and thus allowed the identification of candidate genes for cleft palate (GREM1, CX36, MEIS2), congenital heart defect (ACTC, GREM1, CX36, MEIS2), and mental retardation (ARHGAP11A, CHRNA7, CHRM5). (c) 2006 Wiley-Liss, Inc.
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