Publication | Open Access
Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.
33
Citations
7
References
1992
Year
Chromosome 20High ResolutionMendelian DisorderCytogeneticsGenetic DisorderGeneticsGenetic EpidemiologyPathologyAlagille SyndromeMedicineChromosome 9Situ HybridisationMolecular Medicine
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.
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