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Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission
R R McKenney1, F F Elder, J Garcia
1Graduate School of Biomedical Sciences, University of Texas, Health Science Center, Houston 77030, USA.
Abstract:
We 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.
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