title: Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.
abstract: We describe three families segregating different reciprocal chromosome translocations, t(7;18)(p21.2;q23), t(2;7)(q21.1;p21.2), and t(5;7)(p15.3;p21.2). A total of seven apparently balanced carriers have been identified and all manifest features of the Saethre-Chotzen syndrome, although only two have overt craniosynostosis. In one family the carriers are immediately recognisable by their unusual ears, and clefts of the hard or soft palate are present in all three families. These observations extend previous linkage and cytogenetic evidence that a locus for Saethre-Chotzen syndrome resides in band 7p21.2.
authors.affiliation: Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.
authors.forename: A O
authors.initials: AO
authors.lastname: Wilkie
authors.forename: S P
authors.initials: SP
authors.lastname: Yang
authors.forename: D
authors.initials: D
authors.lastname: Summers
authors.forename: M D
authors.initials: MD
authors.lastname: Poole
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003582:Cytogenetics; D004423:Ear / Q000002:abnormalities; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic