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  • Title: Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome.
    Author: Breslau EJ, Disteche C, Hall JG, Thuline H, Cooper P.
    Journal: Am J Med Genet; 1981; 10(2):179-86. PubMed ID: 7315874.
    Abstract:
    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.
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