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Article

A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy

9 Sept 2010

Abstract excerpt

The recent development of high-throughput analysis for genomic copy numbers has enabled to identify microscopic chromosomal duplications that had never been recognized before. Microarray-based comparative genomic hybridization (aCGH) identified a de novo 2.1-Mb microduplication in the 22q11.22q11.23 region surrounded by low copy repeats (LCRs) LCR22E and LCR22H in a 5-year-old boy with developmental delay,...

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PMID: 20830801
DOI: 10.1002/ajmg.a.33658

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