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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.

Original publication




Journal article


J Med Genet

Publication Date





174 - 180


Acrocephalosyndactylia, Adult, Child, Preschool, Chromosomes, Human, Pair 18, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 5, Chromosomes, Human, Pair 7, Cytogenetics, Ear, Family Health, Female, Heterozygote, Humans, Male, Pedigree, Translocation, Genetic