Cytogenetic and molecular analysis in Angelman syndrome.
We report on cytogenetic and molecular analyses of 29 Angelman syndrome (AS) individuals ascertained in 1990 through the first National Angelman Syndrome Conference. High resolution GTG- and GBG-banded chromosomes were studied. Standard molecular analysis with six 15q11q13 DNA sequences was used to analyze copy number and parental origin of 15q11q13. Concordance between molecular and cytogenetic data was excellent. The combined data showed that 23 of the 27 probands (85%) on whom we had definitive results have deletions of the chromosome 15q11q13 region. Two classes of deletion were detected molecularly: most patients were deleted for the 5 more proximal probes, but in 2 cases the deletion extended distally to include in sixth probe. In the 13 cases where the parental origin of the deleted chromosome 15 could be established, it was maternal. There were no cases of uniparental disomy. Cytological observations of the relative sizes of the heterochromatic regions of the short arm of chromosome 15 suggested that chromosomes with large heterochromatic blocks may be more prone to de novo deletion.
Angelman Syndrome, Chromosome Banding, Chromosome Deletion, Chromosomes, Human, Pair 15, DNA Probes, Dosage Compensation, Genetic, Female, Humans, Male, Pedigree, Polymorphism, Restriction Fragment Length
Medical Subject Headings
Angelman Syndrome; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 15; DNA Probes; Dosage Compensation, Genetic; Female; Humans; Male; Pedigree; Polymorphism, Restriction Fragment Length
American journal of medical genetics
Digital Object Identifier (DOI)
Zackowski, J L; Nicholls, R D; Gray, B A; Bent-Williams, A; Gottlieb, W; Harris, P J; Waters, M F; Driscoll, D J; Zori, R T; and Williams, C A, "Cytogenetic and molecular analysis in Angelman syndrome." (1993). Translational Neuroscience. 1491.