Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13)
- 1 December 1983
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 16 (4) , 589-594
- https://doi.org/10.1002/ajmg.1320160416
Abstract
A father and three of his offspring had skeletal abnormalities consisting of a short forearm, cubitus valgus, fusion of first and second cervical vertebrae, and cleft of L5 and SI. All four had a reciprocal, apparently balanced, translocation 2;8(q32;p13). Normal sibs had normal chromosomes. We conclude that this may be a rare instance of an autosomal dominant condition associated with a balanced chromosome translocation.Keywords
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