Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome?

Abstract excerpt

Array-based comparative genomic hybridization is a routine technology that helps clinicians in the diagnostic evaluation of individuals presenting with developmental delay or malformation anomalies. With this technique, several patients affected by microdeletion 2p15-p16.1 have been reported and this anomaly has been recognized as a distinct syndrome. In contrast, clinical features of patients with...

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