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Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications

1 Jan 2010

Abstract excerpt

The chromosome region 22q11.2 has long been recognized to be susceptible to genomic rearrangement. More recently, this genomic instability has been shown to extend distally (involving LCR22E-H) to the commonly deleted/duplicated region. To date, 21 index cases with 'distal' 22q11.2 duplications have been reported. We report on the clinical and molecular characterization of 16 individuals with distal 22q11.2...

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PMID: 22140377
DOI: 10.1159/000327982

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