Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.
Bottom Line: Microarray-based comparative genomic hybridization (array-CGH) is considered to be superior for the investigation of chromosomal aberrations in children with MR, and has been demonstrated to improve the diagnostic detection rate of these small chromosomal abnormalities.The yield of identified de novo alterations detected in this study is somewhat less than previously described, and might reflect the importance of which selection criterion of patients to be used before array-CGH analysis is performed.However, array-CGH proved to be a high-quality and reliable tool for genome-wide screening of MR patients of unknown etiology.
Affiliation: Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden. email@example.comShow MeSH
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Mentions: As shown in Fig. 1A, an interstitial deletion spanning seven clones, RP5-1049G16 through RP5-1071L10, was detected at 20q13.12→q13.13, which could be verified by FISH using the two different BAC clones, RP5-1049G16 and RP5-1071L10 located at the detected breakpoints (Fig. 1B, and data not shown). This deletion could not be detected in the parents and was considered de novo and consequently of clinical significance. A fraction of this region, covering RP5-1049G16, has been reported in the Database of Genomic Variants (Tuzun et al., 2005; McCarroll et al., 2006; Redon et al., 2006).
Affiliation: Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden. firstname.lastname@example.org