BAC array CGH reveals genomic aberrations in idiopathic mental retardation.
作者： Noriko Miyake , Osamu Shimokawa , Naoki Harada , Nadia Sosonkina , Aiko Okubo
DOI: 10.1002/AJMG.A.31098
关键词:
摘要: Array using 2,173 BAC clones covering the whole human genome has been constructed. All spotted were confirmed to show a unique signal at predicted chromosomal location by FISH analysis in our laboratory. A total of 30 individuals with idiopathic mental retardation (MR) analyzed comparative genomic hybridization this array. Three deletions, one duplication, and unbalanced translocation could be detected five patients, which are likely contribute MR. The constructed array was shown an efficient tool for detection pathogenic rearrangements MR patients as well copy number polymorphisms (CPNs).
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