Screening of microdeletions of chromosome 20 in patients with Alagille syndrome
| Autor: | Alain Aurias, Chantal Desmaze, A M Dutrillaux, M Hadchouel, Jean-François Deleuze, Gareth J. Thomas |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Genetics
medicine.medical_specialty Hybridization probe Chromosomes Human Pair 20 Cytogenetics Locus (genetics) Karyotype Biology Cosmids medicine.disease Chromosome Banding Alagille Syndrome Alagille syndrome medicine Cosmid Humans Genetic Testing Chromosome Deletion Chromosome 20 Allele DNA Probes Alleles Genetics (clinical) Research Article |
| Zdroj: | Journal of Medical Genetics. 29:233-235 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.29.4.233 |
| Popis: | We report a cytogenetic and molecular study of a series of patients with Alagille syndrome. All 14 patients were studied with high resolution banding techniques and eight of them were also analysed with non-radioactive in situ hybridisation of the cosmid probe D20S6. Seven of these eight patients were also studied for allelic losses at the D20S6 locus. No microdeletion of chromosome 20 was found in this series. |
| Databáze: | OpenAIRE |
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