Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.
- 1 March 1997
- journal article
- Vol. 60 (3) , 574-80
Abstract
Angelman syndrome (AS) most frequently results from large (> or = 5 Mb) de novo deletions of chromosome 15q11-q13. The deletions are exclusively of maternal origin, and a few cases of paternal uniparental disomy of chromosome 15 have been reported. The latter finding indicates that AS is caused by the absence of a maternal contribution to the imprinted 15q11-q13 region. Failure to inherit a paternal 15q11-q13 contribution results in the clinically distinct disorder of Prader-Willi syndrome. Cases of AS resulting from translocations or pericentric inversions have been observed to be associated with deletions, and there have been no confirmed reports of balanced rearrangements in AS. We report the first such case involving a paracentric inversion with a breakpoint located approximately 25 kb proximal to the reference marker D15S10. This inversion has been inherited from a phenotypically normal mother. No deletion is evident by molecular analysis in this case, by use of cloned fragments mapped to within approximately 1 kb of the inversion breakpoint. Several hypotheses are discussed to explain the relationship between the inversion and the AS phenotype.This publication has 44 references indexed in Scilit:
- De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndromeNature Genetics, 1997
- Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15.1991
- Uniparental paternal disomy in Angelman's syndromeThe Lancet, 1991
- Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprintingAmerican Journal of Medical Genetics, 1990
- Vector-Alu PCR: a rapid step in mapping cosmids and YACsNucleic Acids Research, 1990
- The association of Angelman's syndrome with deletions within 15q11-13.Journal of Medical Genetics, 1989
- Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletionAmerican Journal of Medical Genetics, 1989
- Is angelman syndrome an alternate result of del(15)(qllql3)?American Journal of Medical Genetics, 1987
- Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significanceAmerican Journal of Medical Genetics, 1987
- Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome.Proceedings of the National Academy of Sciences, 1986