17p13.3 Microduplication, a Potential Novel Genetic Locus for Nonsyndromic Bilateral Cleft Lip and Palate. (May 2015)

• Record Type: Journal Article
• Authors: Ibitoye, Rita M.; Roberts, Joanna; Goodacre, Tim; Kini, Usha
• Is Part Of: Cleft palate-craniofacial journal. Volume 52:Number 3(2015)
• Page Start: 359
• Page End: 362
• Publication Date: 2015-05
• Subjects: bilateral cleft lip and palate -- cleft lip and palate -- chromosome 17p13.3 -- genetic -- inherited -- microduplication -- nonsyndromic; Cleft palate -- Periodicals; Skull -- Abnormalities -- Periodicals; Cranial manipulation -- Periodicals; Skull -- Abnormalities -- Surgery -- Periodicals; Face -- Abnormalities -- Surgery -- Periodicals; Fente palatine -- Périodiques; Crâne -- Malformations -- Périodiques; Manipulation crânienne -- Périodiques; Crâne -- Malformations -- Chirurgie -- Périodiques; Face -- Malformations -- Chirurgie -- Périodiques; Cleft palate; Cranial manipulation; Face -- Abnormalities -- Surgery; Skull -- Abnormalities; Skull -- Abnormalities -- Surgery; Cleft Lip; Cleft Palate; Facial Bones -- abnormalities; Skull -- abnormalities; Periodicals; Periodicals; Periodicals; 617.522
• DOI: 10.1597/13-113
• Languages: English
• ISSNs: 1055-6656

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.