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

Abstract

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.

Keywords: 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.