Brachmann-de Lange syndrome: Evidence for autosomal dominant inheritance
โ Scribed by Robinson, Luther K. ;Jones, Kenneth Lyons ;Wolfsberg, Eric ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1985
- Tongue
- English
- Weight
- 395 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0148-7299
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A mother with mild phenotype and her severely affected son, both with classic manifestations of Brachmann-de Lange syndrome (BDLS), are described. This documented mother-to-child transmission supports the hypothesis of autosomal dominant transmission with intrafamilial variability. Known cases of BD
W e 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 th