Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three 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)(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 hav...

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Detalhes bibliográficos
Main Authors: Wilkie, A O, Yang, S P, Summers, D, Poole, M D, Reardon, W, Winter, R M
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050312/
https://ncbi.nlm.nih.gov/pubmed/7783164
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