SAETHRE-CHOTZEN-SYNDROME ASSOCIATED WITH BALANCED TRANSLOCATIONS INVOLVING 7P21 - 3 FURTHER FAMILIES

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)(p 15.3;p21.2). A total of seven apparently balanced carriers have been i dentified and all manifest features of the Saethre-Chotzen syndrome, a lthough only two have overt craniosynostosis. In one family the carrie rs are immediately recognisable by their unusual ears, and clefts of t he hard or soft palate are present in all three families. These observ ations extend previous linkage and cytogenetic evidence that a locus f or Saethre-Chotzen syndrome resides in band 7p21.2.