title: Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission.
abstract: 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 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.
authors.affiliation: Graduate School of Biomedical Sciences, University of Texas, Health Science Center, Houston 77030, USA.
authors.forename: R R
authors.initials: RR
authors.lastname: McKenney
authors.forename: F F
authors.initials: FF
authors.lastname: Elder
authors.forename: J
authors.initials: J
authors.lastname: Garcia
authors.forename: H
authors.initials: H
authors.lastname: Northrup
mesh_terms: D000328:Adult; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000235:genetics* / Q000473:pathology; D005183:Failure to Thrive; D017809:Fatal Outcome; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype