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Brachmann-de Lange syndrome: Autosomal dominant inheritance and male-to-male transmission

โœ Scribed by McKenney, Robin R.; Elder, Frederick F.B.; Garcia, Jose; Northrup, Hope

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
436 KB
Volume
66
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

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 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.

๐Ÿ“œ SIMILAR VOLUMES

Autosomal dominant inheritance of Brachm
Autosomal dominant inheritance of Brachmann-de Lange syndrome
โœ Kozma, Chahira ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 411 KB ๐Ÿ‘ 2 views

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