title: Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome.
abstract: A patient with the Brachmann-de Lange syndrome was found to have an apparently balanced de novo translocation 14q; 21q. The relationship between this uncommon translocation and the patient's phenotype is unclear. Although most patients with the Brachmann-de Lange syndrome have normal chromosomes, the possibility of aetiological heterogeneity, including some rare chromosomal abnormalities, cannot be dismissed.
mesh_terms: D002901:Chromosomes, Human, 13-15; D002904:Chromosomes, Human, 21-22 and Y; D003635:De Lange Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D014178:Translocation, Genetic