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  • Title: Molecular study of chromosome 15 in 22 patients with Angelman syndrome.
    Author: Beuten J, Mangelschots K, Buntinx I, Coucke P, Brouwer OF, Hennekam RC, Van Broeckhoven C, Willems PJ.
    Journal: Hum Genet; 1993 Jan; 90(5):489-95. PubMed ID: 8094063.
    Abstract:
    DNA studies in 22 families with Angelman syndrome (AS) were performed using the chromosome 15 marker loci D15S9, D15S10, D15S11, D15S12, D15S13, D15S18, D15S24, D15S86, the alpha-actin gene and the GABA beta 3 receptor gene (GABRB3). Uniparental disomy of chromosome 15 was excluded in all patients. Eighteen AS patients (82%) showed a molecular deletion of chromosome 15q11-q13 with one or more of these markers. No duplications of junction fragments, bridging deletions or duplication breakpoints were observed. The GABRB3 gene was deleted in all deletion-positive patients tested. Analysis of maternal DNA indicated that each deletion was a de novo event. All deletions were of maternal origin; this is in agreement with genomic imprinting in AS.
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