Molecular analysis of chromosome region 11p13 in patients with Drash syndrome
| Autor: | Christopher D. Mitchell, John K. Cowell, Buckle B, T. M. Barratt, R. B. Wadey, L. Jadresic |
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| Rok vydání: | 1991 |
| Předmět: |
Male
X Chromosome Biology Y chromosome Wilms Tumor Cell Line Chromosome regions Genetics medicine Humans Genitalia Child Genetics (clinical) X chromosome Autosome Chromosomes Human Pair 11 Wilms' tumor Karyotype Syndrome medicine.disease Human genetics Phenotype Aniridia Karyotyping Female Kidney Diseases DNA Probes |
| Zdroj: | Human genetics. 86(5) |
| ISSN: | 0340-6717 |
| Popis: | 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 11p13. 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. |
| Databáze: | OpenAIRE |
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