TY - JOUR
T1 - The severe end of the spectrum
T2 - Hypoplastic left heart in Potocki-Lupski syndrome
AU - Sanchez-Valle, Amarilis
AU - Pierpont, Mary Ella
AU - Potocki, Lorraine
PY - 2011/2
Y1 - 2011/2
N2 - 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.
AB - 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.
KW - Autism
KW - Chromosome 17p duplication
KW - Failure to thrive
KW - Hypoplastic left heart syndrome
KW - Left ventricular outflow track
KW - RAI1
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U2 - 10.1002/ajmg.a.33844
DO - 10.1002/ajmg.a.33844
M3 - Article
C2 - 21271655
AN - SCOPUS:79251525210
SN - 1552-4825
VL - 155
SP - 363
EP - 366
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 2
ER -