ArticleAmerican journal of human genetics1997
Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 28 citations in OpenAlex.
- A NovelBalkan journal of medical genetics : BJMG · 2018Article
- The Largest Paracentric Inversion, the Highest Rate of Recombinant Spermatozoa. Case Report: 46,XY, inv(2)(q21.2q37.3) and Literature Review.Balkan journal of medical genetics : BJMG · 2014Article
- Recurrence of Angelman syndrome in siblings: challenges in genetic counseling.Indian journal of pediatrics · 2014Article
- Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype.Molecular cytogenetics · 2012Article
- Distinct phenotypes distinguish the molecular classes of Angelman syndrome.Journal of medical genetics · 2001Article
- Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Journal of medical genetics · 2001Article
- Mutation analysis of UBE3A in Angelman syndrome patients.American journal of human genetics · 1998Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
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.
Indexed as
Identifiers
9042916PMC1712510W1511153524What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.