Identification of a pathogenic microduplication in a Chinese split-hand/split-foot malformation family / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE To identify the potential pathogenic mutation in a Chinese family with split hand/foot malformation (SHFM). METHODS Affymetrix SNP 6.0 array was used to perform a genome-wide copy number variations scan, and quantitative real-time PCR (qPCR) was applied to validate the identified genomic duplication. RESULTS A ~560 kb microduplication on the chromosome 10q24 was identified. The qPCR assay confirmed the presence of this microduplication in all the available affected family members. CONCLUSION The ~560 kb microduplication is probably the pathogenic mutation underlying the SHFM phenotype in the studied family.