Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).
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 S1. 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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002574:Cervical Vertebrae / Q000002:abnormalities; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005542:Forearm / Q000002:abnormalities*; D006801:Humans; D008161:Lumbosacral Region / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic