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Potocki–Lupski syndrome: An inherited dup(17)(p11.2p11.2) with hypoplastic left heart

Low copy repeat (LCR) sequences in 17p11.2 predispose this region to genomic deletions and duplications. Duplication of 17p11.2, also known as Potocki–Lupski syndrome (PTLS), is a well‐described microduplication syndrome featuring cognitive and language deficits, developmental delay, autistic behavior, structural cardiovascular anomalies, hypotonia, failure to thrive, apnea, and dysmorphism. We present a mother and her two children who share both dysmorphic features and the dup(17)(p11.2p11.2); the first child was born with hypoplastic left heart (HLH). The dup(17)(p11.2p11.2) was identified by GTG‐banding analysis of peripheral blood specimens from all three individuals and confirmed by fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH). Here we provide a thorough description of the phenotypes of the affected individuals, as well as describe physical features not reported previously for PTLS. © 2011 Wiley‐Liss, Inc.