title: 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.
authors.affiliation: Division of Genetics, Children's Hospital, Boston, Massachusetts, USA.
authors.forename: Roman
authors.initials: R
authors.lastname: Yusupov
authors.forename: Amy E
authors.initials: AE
authors.lastname: Roberts
authors.forename: Ronald V
authors.initials: RV
authors.lastname: Lacro
authors.forename: Mary
authors.initials: M
authors.lastname: Sandstrom
authors.forename: Azra H
authors.initials: AH
authors.lastname: Ligon
mesh_terms: D000015:Abnormalities, Multiple; D002675:Child, Preschool; D025063:Chromosome Disorders; D058674:Chromosome Duplication; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000473:pathology*; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype; D058496:Smith-Magenis Syndrome / Q000235:genetics / Q000473:pathology