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Autosomal dominant inheritance of Brachmann-de Lange syndrome

✍ Scribed by Kozma, Chahira

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 411 KB
Volume: 66
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961230)66:4<445::aid-ajmg12>3.0.co;2-u

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✦ Synopsis

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 BDLS with autosomal dominant inheritance are reviewed. Although most cases of BDLS are sporadic, a careful evaluation of parents of affected children is important for appropriate genetic counseling.

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