title: 17p13.3 microduplication, a potential novel genetic locus for nonsyndromic bilateral cleft lip and palate.
abstract: 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.
authors.forename: Rita M
authors.initials: RM
authors.lastname: Ibitoye
authors.forename: Joanna
authors.initials: J
authors.lastname: Roberts
authors.forename: Tim
authors.initials: T
authors.lastname: Goodacre
authors.forename: Usha
authors.initials: U
authors.lastname: Kini
mesh_terms: D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004739:England; D005260:Female; D020131:Genes, Duplicate; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010375:Pedigree
keywords: bilateral cleft lip and palate; chromosome 17p13.3; cleft lip and palate; genetic; inherited; microduplication; nonsyndromic