Analysis of genomic copy number variation for a Chinese patient with split hand/split foot malformation

Objective To employ single nucleotide polymorphisms （SNP） microarray to detect copy number variations （CNVs） for the diagnosis of disease and molecular classification. Methods For a patient with split-hand/split-foot malformation, genome-wide copy number variants SNP microarray was applied. Tiny copy number variations were verified by real-time fluorescent quantitative PCR. Results The results of SNP microarray has revealed that the patient has carried a 0. 39 Mb duplication in 10q24. 31-24. 32 （102 955 122-103 348 688）, which has encompassed genes including LBX1, BTRC and POLL. By real-time fluorescent quantitative PCR, duplicate area encompassing the pathogenic genes have been verified. The results for LBX1, BTRC, POLL genes were all consistent with the SNP microarray test. Moreover, a duplication was detected in exon 9 of FBXW4 gene which is in nearby. Conclusion SNP chips can efficiently identify tiny CNVs （〈1.0 Mb）. In combination with real-time fluorescence quantitative PCR, this may provide valuable information for prenatal diagnosis. Key words: Split hand/split foot malformations Single nucleotide polymorphisms microarray; Prenatal diagnosis