Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome.
We analyzed the prometaphase chromosomes of 5 patients (including one pair of sibs) with the Brachmann-de Lange syndrome (BDLS), and did not find a significant chromosome abnormality in any of them. It appears that two distinct entities can be distinguished on clinical and chromosomal bases; the BDLS and the dup(3q) syndrome. We still recommend chromosome studies in any patients with BDLS and BDLS-like manifestations.
D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D003635:De Lange Syndrome / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D008677:Metaphase