The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome

Amarilis Sanchez-Valle, Mary Ella Pierpont, Lorraine Potocki

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)363-366
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number2
StatePublished - Feb 2011
Externally publishedYes


  • Autism
  • Chromosome 17p duplication
  • Failure to thrive
  • Hypoplastic left heart syndrome
  • Left ventricular outflow track
  • RAI1


Dive into the research topics of 'The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome'. Together they form a unique fingerprint.

Cite this