title: Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1).
abstract: Opitz trigonocephaly C syndrome (OTCS) is a multiple congenital anomaly syndrome characterized by trigonocephaly, mental retardation, a typical facial appearance, redundant skin, joint and limb abnormalities, and visceral anomalies. We describe a patient with the manifestations of OTCS who also had a de novo balanced reciprocal translocation t(3;18)(q13.13q12.1). His phenotype is a mild form with mild developmental delay and no severe visceral anomalies. Our findings suggest the possible existence of a new locus responsible for OTCS either on 3q13.13 or 18q12.1.
authors.affiliation: Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan. ychinen@med.u-ryukyu.ac.jp
authors.forename: Yasutsugu
authors.initials: Y
authors.lastname: Chinen
authors.forename: Tadashi
authors.initials: T
authors.lastname: Kaname
authors.forename: Kumiko
authors.initials: K
authors.lastname: Yanagi
authors.forename: Nakamichi
authors.initials: N
authors.lastname: Saito
authors.forename: Kenji
authors.initials: K
authors.lastname: Naritomi
authors.forename: Takao
authors.initials: T
authors.lastname: Ohta
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D002893:Chromosomes, Human, Pair 3; D019465:Craniofacial Abnormalities / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic