Chromosomal Microarray Analysis
Genomic DNA was extracted from 200 uL peripheral blood or 10 mL amniotic
fluid using QIAamp DNA Blood Mini Kit (QIAGEN). A total of 250 ng DNA
was used to perform CMA using Affymetrix Cytoscan 750K Array
(Affymetrix, SantaClara, USA) followed by manufacturer’s instructions.
Raw data was processed by the software of ChAS (Affymetrix, SantaClara,
USA) and then analyzed referring to databases including Decipher, ISCA,
ClinGen, OMIM, PudMed and so on.