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. 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