ArticleAmerican journal of human genetics1994
Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 71 citations in OpenAlex.
- Balanced Translocation DisruptingHuman mutation · 2023Article
- Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.Molecular genetics and metabolism reports · 2022Article
- Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.Human mutation · 2019Article
- SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.Human mutation · 2009Article
- Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.American journal of human genetics · 2008Article
- Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities.Journal of human genetics · 2006Article
- Consequences of JAG1 mutations.Journal of medical genetics · 2003Article
- Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.American journal of human genetics · 1998Article
- Alagille syndrome.Journal of medical genetics · 1997Review
- Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?European journal of pediatrics · 1996Article
- Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.American journal of human genetics · 1995Article
- Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.Human genetics · 1995Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alagille syndrome is a clinically defined, dominantly inherited disorder affecting the liver, heart, face, eye, and vertebrae. Alagille syndrome has previously been localized to the short arm of chromosome 20, on the basis of reports of a small number of patients with chromosomal deletions of 20p. We undertook a cytogenetic study of patients with Alagille syndrome and identified a family in which a cytologically balanced translocation between chromosomes 2 and 20, 46,XX/XY, t(2;20)(q21.3;p12), is segregating concordantly with the disease. The breakpoint on chromosome 20p in this t(2;20) is consistent with the shortest region of overlap demonstrated in the reported deletion patients. This is the first report of a translocation associated with 20p and Alagille syndrome, and this rearrangement confirms the location of the Alagille disease gene at 20p12. We have established a somatic cell hybrid from a lymphoblastoid cell line from one of the affected individuals that contains the derivative chromosome 20 (20qter-->p12::2q21.3-->qter) but not the derivative chromosome 2, the normal chromosome 2, or the normal chromosome 20. Southern blot and PCR analysis of probes and sequences from 20p have been studied to define the location of the translocation breakpoint. Our results show that the breakpoint lies distal to D20S61 and D20S56 within band 20p12.
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8037203PMC1918350W2992862709What OpenQuestion holds
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