Autosomal dominant inheritance of Brachmann-de Lange syndrome.
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.
Kozma
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Child Development Center/Department of Pediatrics, Georgetown University Medical Center, Washington, DC 20007-3935, USA.
D000328:Adult; D003635:De Lange Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree