title: The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome.
abstract: Potocki-Lupski syndrome (PTLS) is a recently described microduplication syndrome associated with duplication 17p11.2, including the RAI1 gene. Features of PTLS include hypotonia, feeding difficulties, failure to thrive, developmental delay and behavioral abnormalities including autistic spectrum disorder, anxiety, and inattention. Cardiovascular anomalies were not recognized as a feature of duplication 17p11.2 until 2007 when noted in over 50% of a clinically characterized cohort. We report a patient with hypoplastic left heart syndrome whose diagnosis of PTLS was delayed until a genetic evaluation at age 4 years because of severe expressive language impairment. We suggest that array comparative genomic hybridization be performed in infants with severe congenital heart defects.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Amarilis
authors.initials: A
authors.lastname: Sanchez-Valle
authors.forename: Mary Ella
authors.initials: ME
authors.lastname: Pierpont
authors.forename: Lorraine
authors.initials: L
authors.lastname: Potocki
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D025063:Chromosome Disorders; D058674:Chromosome Duplication; D055028:Comparative Genomic Hybridization / Q000379:methods*; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000473:pathology*; D008297:Male; D058496:Smith-Magenis Syndrome / Q000235:genetics / Q000473:pathology