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Velocardiofacial syndrome(VCFS)is a disease in human with multiple anomalies,an expansive phenotypic spectrum,and diverse genetic mechanisms of copy number variations(CNVs)on 22qi 1.2 or other chromosomes.However,the correlations between CNVs and phenotypes remain ambiguous.This study aims to analyze the types and sizes of CNVs in VCFS patients,to define whether correlations exist between CNVs and clinical manifestations in Chinese VCFS patients.Total 55 clinically diagnosed Chinese VCFS patients and 100 normal controls were detected by multiplex ligation-dependent probe amplification (MLPA).The data from MLPA and all the detailed clinical features of the objects were documented and analyzed.Total 44 patients(80.0%)were diagnosed with CNVs on 22q11.2.Among them,43(78.2%)presented 22q11.2 heterozygous deletions,of whom 40(93.0%)had typical 3-Mb deletion,and 3(7.0%)exhibited proximal 1.5-Mb deletion;no patient was found with atypical deletion on 22q1 1.2.One patient(1.8%)presented 3-Mb duplication mapping to the typical 3-Mb region on 22q11.2,while the other 11 patients(20.0%)and 100 normal controls showed no chromosomal aberration.All the 43 patients with 22q11.2 deletions displayed characteristic face and palatal anomalies;37 of them(86.0%)had cognitive or behavioral disorders,and 23 (53.5%)suffered from immune deficiency;10 patients(23.3%)manifested congenital heart diseases.Interestingly,all the patients presented with the characteristic face had 22q11.2 heterozygous deletions,but no difference in phenotypic spectrum was observed between 3-Mb and 1.5-Mb deletions.Our data suggest that the characteristic face can be used as a key indicator for direct diagnosis of 22q1 1.2 deletions in Chinese VCFS patients.To our knowledge,this is the first report to describe the correlations between molecular diagnosis and clinical phenotypes in Chinese VCFS patients.