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Cleft lip and palate (CLP) is a relatively common congenital malformation. The etiology is complex and postulated to be a combination of genetic and environmental factors. The genetic loci for nonsyndromic CLP remain poorly characterized. Two families have recently been reported with a chromosome 17p13.3 microduplication and CLP. We report a third family with four individuals affected by nonsyndromic bilateral CLP and a 350-kb chromosome 17p13.3 microduplication (17:1,113,102-1,461,838). Our family possesses the smallest overlapping chromosome 17p13.3 microduplication associated with CLP, narrowing down the critical region for this potential new genetic locus for CLP.

Original publication




Conference paper

Publication Date





359 - 362


bilateral cleft lip and palate, chromosome 17p13.3, cleft lip and palate, genetic, inherited, microduplication, nonsyndromic, Chromosomes, Human, Pair 17, Cleft Lip, Cleft Palate, England, Female, Genes, Duplicate, Genetic Predisposition to Disease, Humans, In Situ Hybridization, Fluorescence, Male, Pedigree