Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 140A, Issue 3, Pages 205-211Publisher
WILEY
DOI: 10.1002/ajmg.a.31098
Keywords
mental retardation; BAC array CGH; FISH; chromosomal abnormality
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Array using 2,173 BAC clones covering the whole human genome has been constructecl. All clones spottecl were confirmed to show a Unique signal at the predicted chromosomal location by FISH analysis in our laboratory. A total of 30 individuals with idiopathic mental retardation (MR) were analyzed by comparative genomic hybridization Using this array. Three deletions, one duplication, and one unbalanced translocation could be detected in five patients, which are likely to contribute to MR. The constructed array was shown to be an efficient tool for the detection of pathogenic genomic rearrangements in MR patients as well as copy number polymorphisms (CPN's). (c) 2006 Wiley-Liss, Inc.
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