Related Experiment Video
Updated: Dec 26, 2025
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Second-trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal
Malgorzata Drozniewska1, Mark D Kilby2,3, Julie Vogt4
1West Midlands Regional Genetics Laboratory Birmingham Women's & Children's NHS Foundation Trust Birmingham UK.
Abstract:
Nager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatally. Prenatal chromosomal microarray can aid genotype-phenotype correlation in pregnancies with structural abnormalities seen on ultrasound.
More Related Videos
09:16Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
