PMID- 24055730
OWN - NLM
STAT- MEDLINE
DCOM- 20131223
LR  - 20161125
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 532
IP  - 1
DP  - 2013 Dec 10
TI  - Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings 
      and diagnosis, and literature review.
PG  - 152-9
LID - S0378-1119(13)01249-3 [pii]
LID - 10.1016/j.gene.2013.09.044 [doi]
AB  - We report a molecular cytogenetic characterization of 17p13.3 deletion syndrome 
      by array comparative genomic hybridization (aCGH), fluorescence in situ 
      hybridization (FISH) and quantitative polymerase chain reaction (qPCR) in a fetus 
      with lissencephaly, corpus callosum dysgenesis, ventriculomegaly, microcephaly, 
      intrauterine growth restriction (IUGR), polyhydramnios and single umbilical 
      artery. aCGH analysis revealed a 3.17-Mb deletion at 17p13.3, or arr [hg19] 
      17p13.3 (0-3,165,530)x1. The qPCR assays revealed a maternal origin of the 
      deletion. Metaphase FISH analysis detected the absence of the LIS1 probe signal 
      on the aberrant chromosome 17. The karyotype was 46,XX,del(17)(p13.3). We review 
      the literature of chromosome 17p13.3 deletion syndrome with prenatal findings and 
      diagnosis, and suggest that prenatal ultrasound detection of central nervous 
      system anomalies such as lissencephaly, corpus callosum dysgenesis/agenesis, 
      ventriculomegaly and microcephaly associated with IUGR, polyhydramnios, 
      congenital heart defects, abdominal wall defects and renal abnormalities should 
      include a differential diagnosis of chromosome 17p13.3 deletion syndrome.
CI  - (c) 2013.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; 
      Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese 
      Medicine, College of Chinese Medicine, China Medical University, Taichung, 
      Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming 
      University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of 
      Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: 
      cpc_mmh@yahoo.com.
FAU - Chang, Tung-Yao
AU  - Chang TY
FAU - Guo, Wan-Yuo
AU  - Guo WY
FAU - Wu, Pei-Chen
AU  - Wu PC
FAU - Wang, Liang-Kai
AU  - Wang LK
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Wu, Peih-Shan
AU  - Wu PS
FAU - Su, Jun-Wei
AU  - Su JW
FAU - Chen, Yu-Ting
AU  - Chen YT
FAU - Chen, Li-Feng
AU  - Chen LF
FAU - Wang, Wayseen
AU  - Wang W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20130919
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
SB  - IM
MH  - Adult
MH  - Classical Lissencephalies and Subcortical Band Heterotopias/*diagnosis/diagnostic 
      imaging/*genetics
MH  - Comparative Genomic Hybridization/*methods
MH  - Female
MH  - Fetal Diseases/diagnosis/genetics
MH  - Fetal Growth Retardation/diagnostic imaging/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Polyhydramnios/genetics
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Ultrasonography
OTO - NOTNLM
OT  - ASD
OT  - AVSD
OT  - BAC
OT  - CNS
OT  - Chromosome 17p13.3 deletion
OT  - FISH
OT  - IUGR
OT  - MDLS
OT  - MRI
OT  - Miller-Dieker lissencephaly syndrome
OT  - OMIM
OT  - Online Mendelian Inheritance in Man
OT  - Prenatal diagnosis
OT  - STRs
OT  - TOF
OT  - Ultrasound
OT  - aCGH
OT  - array comparative genomic hybridization
OT  - atrial septal defect
OT  - atrioventricular septal defect
OT  - bacterial artificial chromosome
OT  - central nervous system
OT  - del
OT  - deletion
OT  - fluorescence in situ hybridization
OT  - intrauterine growth restriction
OT  - magnetic resonance imaging
OT  - qPCR
OT  - quantitative polymerase chain reaction
OT  - short tandem repeats
OT  - tetralogy of Fallot
EDAT- 2013/09/24 06:00
MHDA- 2013/12/24 06:00
CRDT- 2013/09/24 06:00
PHST- 2013/06/11 00:00 [received]
PHST- 2013/09/06 00:00 [revised]
PHST- 2013/09/11 00:00 [accepted]
PHST- 2013/09/24 06:00 [entrez]
PHST- 2013/09/24 06:00 [pubmed]
PHST- 2013/12/24 06:00 [medline]
AID - S0378-1119(13)01249-3 [pii]
AID - 10.1016/j.gene.2013.09.044 [doi]
PST - ppublish
SO  - Gene. 2013 Dec 10;532(1):152-9. doi: 10.1016/j.gene.2013.09.044. Epub 2013 Sep 
      19.