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Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1)
Author(s) -
Chinen Yasutsugu,
Kaname Tadashi,
Yanagi Kumiko,
Saito Nakamichi,
Naritomi Kenji,
Ohta Takao
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31341
Subject(s) - trigonocephaly , chromosomal translocation , dysostosis , locus (genetics) , genetics , phenotype , biology , medicine , pediatrics , gene , craniosynostosis , congenital disease
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. © 2006 Wiley‐Liss, Inc.