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  • Title: Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.
    Author: Dunger DB, Davies KE, Pembrey M, Lake B, Pearson P, Williams D, Whitfield A, Dillon MJ.
    Journal: Lancet; 1986 Mar 15; 1(8481):585-7. PubMed ID: 2869305.
    Abstract:
    In studies of the X chromosomes of two unrelated boys with adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy, and mental retardation, conventional G banding did not reveal any numerical or structural abnormality, but direct DNA analysis with the X short-arm probes 754, C7, and OCT revealed a deletion in 1 of these patients. It is likely that both boys have a deletion at Xp21 affecting a number of closely linked disease-specific gene loci.
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