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. 1995 Mar;32(3):174–180. doi: 10.1136/jmg.32.3.174

Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.

A O Wilkie 1, S P Yang 1, D Summers 1, M D Poole 1, W Reardon 1, R M Winter 1
PMCID: PMC1050312  PMID: 7783164

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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