PMID- 21271656
OWN - NLM
STAT- MEDLINE
DCOM- 20110520
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 155A
IP  - 2
DP  - 2011 Feb
TI  - Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left 
      heart.
PG  - 367-71
LID - 10.1002/ajmg.a.33845 [doi]
AB  - 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.
CI  - Copyright (c) 2011 Wiley-Liss, Inc.
FAU - Yusupov, Roman
AU  - Yusupov R
AD  - Division of Genetics, Children's Hospital, Boston, Massachusetts, USA.
FAU - Roberts, Amy E
AU  - Roberts AE
FAU - Lacro, Ronald V
AU  - Lacro RV
FAU - Sandstrom, Mary
AU  - Sandstrom M
FAU - Ligon, Azra H
AU  - Ligon AH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - Potocki-Lupski syndrome
SB  - IM
CIN - Am J Med Genet A. 2011 Feb;155A(2):360-2. PMID: 21271654
MH  - Abnormalities, Multiple
MH  - Child, Preschool
MH  - Chromosome Disorders
MH  - Chromosome Duplication
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - Hypoplastic Left Heart Syndrome/*pathology
MH  - In Situ Hybridization, Fluorescence
MH  - *Phenotype
MH  - Smith-Magenis Syndrome/genetics/pathology
EDAT- 2011/01/29 06:00
MHDA- 2011/05/21 06:00
CRDT- 2011/01/29 06:00
PHST- 2011/01/29 06:00 [entrez]
PHST- 2011/01/29 06:00 [pubmed]
PHST- 2011/05/21 06:00 [medline]
AID - 10.1002/ajmg.a.33845 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2011 Feb;155A(2):367-71. doi: 10.1002/ajmg.a.33845.