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J Med Genet. 1992 April; 29(4): 233–235.
PMCID: PMC1015919

Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.


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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Selected References

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  • Zhang F, Deleuze JF, Aurias A, Dutrillaux AM, Hugon RN, Alagille D, Thomas G, Hadchouel M. Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome). J Pediatr. 1990 Jan;116(1):73–77. [PubMed]
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  • Alagille D, Estrada A, Hadchouel M, Gautier M, Odièvre M, Dommergues JP. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr. 1987 Feb;110(2):195–200. [PubMed]
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