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Abstract
To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft. Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation. 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. Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.
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Schedule a callMore From: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
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