ArticleHuman genetics1989
Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome).
Article in Human genetics, 1989. 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, 64 citations in OpenAlex.
- SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.Human mutation · 2009Article
- 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
- 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
- Alagille syndrome: family studies.Journal of medical genetics · 1995Article
- Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes.Mammalian genome : official journal of the International Mammalian Genome Society · 1994Article
- Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.American journal of human genetics · 1994Article
- The gene for bone morphogenetic protein 2A (BMP2A) is localized to human chromosome 20p12 by radioactive and nonradioactive in situ hybridization.Human genetics · 1992Article
- Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.Journal of medical genetics · 1992Article
- Alagille syndrome and deletion of 20p.Journal of medical genetics · 1990Review
- Localization of the gene for human proliferating nuclear antigen/cyclin by in situ hybridization.Human genetics · 1990Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
High-resolution chromosome analysis of a 19-year-old female proband with syndromic intrahepatic ductular hypoplasia (Alagille syndrome, AWS) revealed an interstitial deletion of chromosome 20p with breakpoints provisionally located in or close to p11.22 and p12.2. Southern blots from digests of DNA of the proband and her chromosomally normal parents were hybridized with the human DNA probes pR12.21, HuPrPcDNA2, and pDS6-SgI, which have been mapped to the region 20 (p12-pter), and rehybridized with the F IX probe for calibration. Comparing the hybridization signals of the normally sized DNA fragments of the family, we found no evidence for loss of any of the three tested distal chromosome 20p loci in our proband. Furthermore, in situ hybridization with HuPrPcDNA2 revealed a specific accumulation of grains at or around the faint distal G band suspected to represent all or most of band p12.3 of the proband's deleted 20p and at p12 of the normal chromosome 20. Thus the AWS of our proband is associated with an interstitial deletion that preserved the three tested distal loci on 20p. Since nine further reported cases of 20p deletion are clinically similar, we propose AWS as a further "contiguous gene syndrome" and assign it to an approximately 8-Mb-large chromosome 20p segment (provisionally, p11.23-p12.1).
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