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Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
J Med Genet. Apr 1992; 29(4): 233–235.
PMCID: PMC1015919
Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.
C Desmaze, J F Deleuze, A M Dutrillaux, G Thomas, M Hadchouel, and A Aurias
CNRS URA 620, Institut Curie, Paris, France.
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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