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Molecular analysis of chromosome region 11p13 in patients with Drash syndrome

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Summary

The association of nephropathy, Wilms' tumour and genital abnormalities is known as Drash syndrome. Two of these features are also seen in the WAGR (Wilms' tumour, aniridia, genito-urinary abnormalities, mental retardation) complex, known to be associated with deletions of chromosome region 11p1S. We have carried out karyotypic and molecular studies in 10 Drash patients, 5 males and 5 females. All the males had a 46XY karyotype as did 3/5 of the phenotypic females, the other two having a 46XX karyotype. One of the 46XX females also had a deletion of region 11p13–p12, the only detectable autosomal chromosome abnormality in any of the patients studied. Lymphoblastoid cell lines were prepared from 6 of the Drash patients and were used in dosage studies using a variety of DNA probes from the 11p13 region. There was no evidence of microdeletions in any patient with a normal karyotype. Because of the 46XY karyotype in phenotypic females, selected X and Y chromosome loci were analysed and all found to be normal. Although Drash syndrome is likely to be of genetic origin, there are no readily detected deletions within the 11p13 region.

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Authors and Affiliations

  1. Department of Paediatric Nephrology, Institute of Child Health, 30 Guilford Street, WC1N 3EH, London, UK

    L. Jadresic & T. M. Barratt

  2. ICRF Laboratory of Molecular Genetics, Department of Haematology/Oncology, Institute of Child Health, 30 Guilford Street, WC1N 3EH, London, UK

    R. B. Wadey, B. Buckle, C. D. Mitchell & J. K. Cowell

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  1. L. Jadresic
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  2. R. B. Wadey
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  3. B. Buckle
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  4. T. M. Barratt
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  5. C. D. Mitchell
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  6. J. K. Cowell
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Jadresic, L., Wadey, R.B., Buckle, B. et al. Molecular analysis of chromosome region 11p13 in patients with Drash syndrome. Hum Genet 86, 497–501 (1991). https://doi.org/10.1007/BF00194641

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  • DOI: https://doi.org/10.1007/BF00194641

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