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