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. 1992 Apr;29(4):233–235. doi: 10.1136/jmg.29.4.233

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

C Desmaze 1, J F Deleuze 1, A M Dutrillaux 1, G Thomas 1, M Hadchouel 1, A Aurias 1
PMCID: PMC1015919  PMID: 1583641

Abstract

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

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alagille D., Estrada A., Hadchouel M., Gautier M., Odièvre M., Dommergues J. P. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr. 1987 Feb;110(2):195–200. doi: 10.1016/s0022-3476(87)80153-1. [DOI] [PubMed] [Google Scholar]
  2. Anad F., Burn J., Matthews D., Cross I., Davison B. C., Mueller R., Sands M., Lillington D. M., Eastham E. Alagille syndrome and deletion of 20p. J Med Genet. 1990 Dec;27(12):729–737. doi: 10.1136/jmg.27.12.729. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Byrne J. L., Harrod M. J., Friedman J. M., Howard-Peebles P. N. del(20p) with manifestations of arteriohepatic dysplasia. Am J Med Genet. 1986 Aug;24(4):673–678. doi: 10.1002/ajmg.1320240411. [DOI] [PubMed] [Google Scholar]
  4. Emanuel B. S. Molecular cytogenetics: toward dissection of the contiguous gene syndromes. Am J Hum Genet. 1988 Nov;43(5):575–578. [PMC free article] [PubMed] [Google Scholar]
  5. Goodfellow P. J., Duncan A. M., Farrer L. A., Holden J. J., White B. N., Kidd J. R., Kidd K. K., Simpson N. E. Localization and linkage of three polymorphic DNA sequences on human chromosome 20. Cytogenet Cell Genet. 1987;44(2-3):112–117. doi: 10.1159/000132354. [DOI] [PubMed] [Google Scholar]
  6. Schmickel R. D. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr. 1986 Aug;109(2):231–241. doi: 10.1016/s0022-3476(86)80377-8. [DOI] [PubMed] [Google Scholar]
  7. Schnittger S., Höfers C., Heidemann P., Beermann F., Hansmann I. Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome). Hum Genet. 1989 Oct;83(3):239–244. doi: 10.1007/BF00285164. [DOI] [PubMed] [Google Scholar]
  8. Zhang F. R., Heilig R., Thomas G., Aurias A. A one-step efficient and specific non-radioactive non-fluorescent method for in situ hybridization of banded chromosomes. Chromosoma. 1990 Oct;99(6):436–439. doi: 10.1007/BF01726696. [DOI] [PubMed] [Google Scholar]
  9. Zhang F., Deleuze J. F., Aurias A., Dutrillaux A. M., Hugon R. N., 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. doi: 10.1016/s0022-3476(05)81648-8. [DOI] [PubMed] [Google Scholar]

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