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Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome)

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Summary

High-resolution chromosome analysis of a 19-year-old female proband with syndromic intrahepatic ductular hypoplasia (Alagille syndrome, AWS) revealed an interstitial deletion of chromosome 20p with breakpoints provisionally located in or close to p11.22 and p12.2. Southern blots from digests of DNA of the proband and her chromosomally normal parents were hybridized with the human DNA probes pR12.21, HuPrPcDNA2, and pDS6-SgI, which have been mapped to the region 20 (p12-pter), and rehybridized with the F IX probe for calibration. Comparing the hybridization signals of the normally sized DNA fragments of the familiy, we found no evidence for loss of any of the three tested distal chromosome 20p loci in our proband. Furthermore, in situ hybridization with HuPrPcDNA2 revealed a specific accumulation of grains at or around the faint distal G band suspected to represent all or most of band p12.3 of the proband's deleted 20p and at p12 of the normal chromosome 20. Thus the AWS of our proband is associated with an interstitial deletion that preserved the three tested distal loci on 20p. Since nine further reported cases of 20p deletion are clinically similar, we propose AWS as a further “contiguous gene syndrome” and assign it to an approximately 8-Mb-large chromosome 20p segment (provisionally, p11.23–p12.1).

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Author notes

  1. Christiane Höfers

    Present address: Abteilung Molekulare Biologie, Max-Planck-Institut für Biophysikalische Chemie, Am Fassberg, D-3400, Göttingen, Federal Republic of Germany

  2. Friedrich Beermann

    Present address: Deutsches Krebsforschungszentrum, Institut für Zell-und Tumorbiologie, D-6900, Heidelberg, Federal Republic of Germany

Authors and Affiliations

  1. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Federal Republic of Germany

    Susanne Schnittger, Christiane Höfers, Friedrich Beermann & Ingo Hansmann

  2. Kinderklinik und Poliklinik der Universität, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany

    Peter Heidemann

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  1. Susanne Schnittger
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  4. Friedrich Beermann
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  5. Ingo Hansmann
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Schnittger, S., Höfers, C., Heidemann, P. et al. Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome). Hum Genet 83, 239–244 (1989). https://doi.org/10.1007/BF00285164

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  • DOI: https://doi.org/10.1007/BF00285164

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