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

Abstract：

: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.

journal_name

Hum Genet

journal_title

Human genetics

authors

Jadresic L,Wadey RB,Buckle B,Barratt TM,Mitchell CD,Cowell JK

doi

10.1007/BF00194641

subject

Has Abstract

pub_date

1991-03-01 00:00:00

pages

497-501

issue

5

eissn

0340-6717

issn

1432-1203

journal_volume

86

pub_type

杂志文章

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