Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review.
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)×1. 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.
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.
Chih-Ping
CP
Chen
Tung-Yao
TY
Chang
Wan-Yuo
WY
Guo
Pei-Chen
PC
Wu
Liang-Kai
LK
Wang
Schu-Rern
SR
Chern
Peih-Shan
PS
Wu
Jun-Wei
JW
Su
Yu-Ting
YT
Chen
Li-Feng
LF
Chen
Wayseen
W
Wang
D000328:Adult; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D006831:Polyhydramnios / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography
ASD; AVSD; BAC; CNS; Chromosome 17p13.3 deletion; FISH; IUGR; MDLS; MRI; Miller–Dieker lissencephaly syndrome; OMIM; Online Mendelian Inheritance in Man; Prenatal diagnosis; STRs; TOF; Ultrasound; aCGH; array comparative genomic hybridization; atrial septal defect; atrioventricular septal defect; bacterial artificial chromosome; central nervous system; del; deletion; fluorescence in situ hybridization; intrauterine growth restriction; magnetic resonance imaging; qPCR; quantitative polymerase chain reaction; short tandem repeats; tetralogy of Fallot