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

Abstract

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.