Copy number variation analysis of a fetus with Silver-Russell syndrome in China. Copy number variation analysis of a fetus with Silver-Russell syndrome in China

The Affymetrix CytoScan 750K Array chip contains 200000 SNP markers and 550000 CNV markers, distributed across the entire human genome at an average density of approximately 1 marker/4kb (not covering all loci of the entire chromosome genome). It is used to detect clinically significant chromosomal microdeletions/microduplications, chromosomal subtelomer deletion syndrome, and other abnormal chromosomal copy number variations (CNVs) as well as loss of heterozygosity (LOH). In a case study of Zhangzhou Municipal Hospital of Fujian Province, copy number variation detection was performed on a fetus with Silver-Russell syndrome using CytoScan 750K Array chip, and variations in the corresponding region were identified. Overall design: Affymetrix CytoScan 750K Array was performed according to the manufacturer's directions on DNA extracted from amniotic fluid samples. Copy number analysis of Affymetrix CytoScan 750K Array was performed for a fetus with Silver-Russell syndrome