Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review

Chih-Ping ChenWayseen Wang


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.


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Jan 4, 2012·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang

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Apr 29, 2019·Cytogenetic and Genome Research·Siew-Yin CheeWen-Kan Feng
Jun 3, 2018·Cold Spring Harbor Molecular Case Studies·Nicholas FarrisSusan Klugman
Oct 8, 2020·Annals of Human Genetics·Xiaomei ShiJing Wu
Oct 14, 2020·American Journal of Medical Genetics. Part a·Chaofan ZhangClaudia M B Carvalho

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