| Literature DB >> 6660251 |
V Ventruto, R Pisciotta, S Renda, B Festa, M M Rinaldi, M Stabile, M L Cavaliere, M Esposito.
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 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.Entities:
Mesh:
Year: 1983 PMID: 6660251 DOI: 10.1002/ajmg.1320160416
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299