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. 2020 Jan 31;57(8):558–566. doi: 10.1136/jmedgenet-2019-106377

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© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Outline of the study design. Patients suspected of suffering from DD were enrolled according to the inclusion criteria. A total of 1100 patients were originally recruited in this study cohort. After assessing their clinical phenotypes, karyotype tests were performed on those highly suspected of karyotypic abnormalities. A total of 10 patients with abnormal karyotypes were identified (two Turner syndrome and eight trisomy 21) and excluded. Clinical exome sequencing (CES) was performed on the remaining 1090 patients. Variation detection included conventional SNV detection and NGS data-based CNV detection. Genetic interpretation of the detected variations was then conducted. Collectively, 152 diagnostic CNVs were identified in 139 patients, and 397 diagnostic SNVs were identified in 320 patients. The qPCR/MLPA/CMA and Sanger sequencing were respectively performed for confirmation of CNVs and SNVs. CMA, chromosomal microarray analysis; DD, developmental disorders; MLPA, multiplex ligation-dependent probe amplification; SNVs, single nucleotide variations.