Brachmann-de Lange syndrome: Autosomal dominant inheritance and male-to-male transmission
1996; Wiley; Volume: 66; Issue: 4 Linguagem: Inglês
10.1002/(sici)1096-8628(19961230)66
ISSN1096-8628
AutoresRobin R. McKenney, F.F.B. Elder, José Daniel Jiménez García, Hope Northrup,
Tópico(s)RNA and protein synthesis mechanisms
ResumoWe report on familial occurrence of the Brachmann-de Lange syndrome (BDLS): a mildly affected father and his severely affected son and daughter who have different mothers. Both children are severely affected while the father has a much milder but definite BDLS phenotype. Our report documents the third example of male-to-male transmission and adds to the argument against exclusively maternal transmission in familial cases. In addition, our findings illustrate the occurrence of severe manifestations in cases of familial BDLS. © 1996 Wiley-Liss, Inc.
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