Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1).
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.
Chinen
Yasutsugu
Y
Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan. ychinen@med.u-ryukyu.ac.jp
Kaname
Tadashi
T
Yanagi
Kumiko
K
Saito
Nakamichi
N
Naritomi
Kenji
K
Ohta
Takao
T
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