PMID- 28413209
OWN - NLM
STAT- MEDLINE
DCOM- 20180802
LR  - 20180802
IS  - 0126-8635 (Print)
IS  - 0126-8635 (Linking)
VI  - 39
IP  - 1
DP  - 2017 Apr
TI  - Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental 
      delay.
PG  - 77-81
AB  - Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, 
      trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and 
      a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key 
      features of such patients are autism spectrum disorder, learning disabilities, 
      developmental delay, attention-deficit disorder, infantile hypotonia and 
      cardiovascular abnormalities. Previous studies using microarray identified 
      variations in the size and extent of the duplicated region of chromosome 17p11.2. 
      However, there are a few genes which are considered as candidates for PTLS which 
      include RAI1, SREBF1, DRG2, LLGL1, SHMT1 and ZFP179. In this report, we 
      investigated a case of a 3-year-old girl who has developmental delay. Her 
      chromosome analysis showed a normal karyotype (46,XX). Analysis using array CGH 
      (4X44 K, Agilent USA) identified an ~4.2 Mb de novo duplication in chromosome 
      17p11.2. The result was confirmed by fluorescence in situ hybridization (FISH) 
      using probes in the critical PTLS region. This report demonstrates the importance 
      of microarray and FISH in the diagnosis of PTLS.
FAU - Shuib, S
AU  - Shuib S
AD  - Universiti Kebangsaan Malaysia Medical Centre (UKMMC), Department of Pathology, 
      Jalan Yaacob Latif, Bandar Tun Razak, Cheras 56000 Kuala Lumpur, Malaysia. 
      salwati@ppukm.ukm.edu.my.
FAU - Saaid, N N
AU  - Saaid NN
FAU - Zakaria, Z
AU  - Zakaria Z
FAU - Ismail, J
AU  - Ismail J
FAU - Abdul Latiff, Z
AU  - Abdul Latiff Z
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Malaysia
TA  - Malays J Pathol
JT  - The Malaysian journal of pathology
JID - 8101177
RN  - Potocki-Lupski syndrome
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/genetics
MH  - Autism Spectrum Disorder/*diagnosis/genetics
MH  - Child, Preschool
MH  - Chromosome Disorders/*diagnosis/genetics
MH  - Chromosome Duplication/genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Comparative Genomic Hybridization/methods
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Phenotype
EDAT- 2017/04/18 06:00
MHDA- 2018/08/03 06:00
CRDT- 2017/04/18 06:00
PHST- 2017/04/18 06:00 [entrez]
PHST- 2017/04/18 06:00 [pubmed]
PHST- 2018/08/03 06:00 [medline]
PST - ppublish
SO  - Malays J Pathol. 2017 Apr;39(1):77-81.