[Clinical and genetic analysis of a case carrying 7p22.3 deletion, 7p22.3p22.2 duplication and 7q33q36.3 duplication].

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.