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

doi:10.1002/(SICI)1096-8628(19961230)66:4<449::AID-AJMG13>3.0.CO;2-U

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Article

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

American journal of medical genetics - 30 Dec 1996

McKenney R R, Elder F F, Garcia J, Northrup H

Abstract excerpt

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...

Topics

Adult
Child, Preschool
De Lange Syndrome
Failure to Thrive
Fatal Outcome
Female
Genes, Dominant
Humans
Infant, Newborn
Karyotyping
Male
Phenotype

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