Clinical and genetic analysis of a case carrying 7p22.3 deletion, 7p22.3p22.2 duplication and 7q33q36.3 duplication / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To correlate genotype with clinical phenotype of a child featuring multiple congenital malformations.@*METHODS@#Clinical examination of the patient was carried out. Chromosome microarray analysis (CMA) was employed to detect genomic copy number variations (CNVs), and quantitative PCR (qPCR) was used for verifying the result.@*RESULTS@#The child had congenital heart disease (ventricular septal defect, atrial septal defect, pulmonary arterial hypertension, and tricuspid regurgitation), psychomotor retardation, agenesis of corpus callosum, hypospadias and scoliosis. CMA has detected a 1.8 Mb deletion at 7p22.3, a 1.8 Mb duplication at 7p22.3p22.2 and a 23.5 Mb duplication at 7q33q36.3 in the fetus, all of which were de novo in origin.@*CONCLUSION@#CMA can precisely detect microdeletion/duplications and facilitate the genotype-phenotype correlation analysis.