Autosomal dominant inheritance of Brachmann-de Lange syndrome

Corresponding Author

Chahira Kozma

Child Development Center/Department of Pediatrics, Georgetown University Medical Center, Washington, DC

Child Development Center, Georgetown University Medical Center, 3307 M Street, N.W. Suite 401, Washington, D.C. 20007-3935Search for more papers by this author

Chahira Kozma,

Corresponding Author

Chahira Kozma

Child Development Center/Department of Pediatrics, Georgetown University Medical Center, Washington, DC

Child Development Center, Georgetown University Medical Center, 3307 M Street, N.W. Suite 401, Washington, D.C. 20007-3935Search for more papers by this author

First published: 30 December 1996

https://doi.org/10.1002/(SICI)1096-8628(19961230)66:4<445::AID-AJMG12>3.0.CO;2-U

Citations: 8

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Abstract

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. © 1996 Wiley-Liss, Inc.

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Volume66, Issue4

30 December 1996

Pages 445-448

Autosomal dominant inheritance of Brachmann-de Lange syndrome

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Autosomal dominant inheritance of Brachmann-de Lange syndrome

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