Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission.
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.
McKenney
R R
RR
Graduate School of Biomedical Sciences, University of Texas, Health Science Center, Houston 77030, USA.
Elder
F F
FF
Garcia
J
J
Northrup
H
H
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