Objective: To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft.
Methods: Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation.
Results: SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes.
Conclusion: Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.