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The severe end of the spectrum: Hypoplastic left heart in Potocki‐Lupski syndrome
Author(s) -
SanchezValle Amarilis,
Pierpont Mary Ella,
Potocki Lorraine
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33844
Subject(s) - hypotonia , heart defect , hypoplastic left heart syndrome , gene duplication , failure to thrive , medicine , autism spectrum disorder , pediatrics , anxiety , cardiology , autism , genetics , gene , psychiatry , heart disease , biology
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. © 2011 Wiley‐Liss, Inc.