Cytogenet Cell Genet. 1981;31(2):120-3.

Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations.

Abstract

The gene for red blood cell (RBC) catalase has recently been mapped to 11p13, and a gene dosage effect has been demonstrated for individuals with triplication or deletion of that region. Deletion of the 11p13 band has also been associated with aniridia, with and without Wilm's tumor. We studied the RBC catalase levels in individuals without detectable chromosomal abnormalities but with aniridia, Wilm's tumor, and the combination of aniridia and Wilms' tumor, to determine whether catalase levels might provide evidence for a submicroscopic chromosomal deletion in the 11p13 region. All karyotypically normal patients were found to have normal catalase levels.

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11p13 deletion and reduced RBC catalase in a patient with aniridia, glaucoma and bilateral Wilms' tumor. [Tumori. 1985]
11p13 deletion and reduced RBC catalase in a patient with aniridia, glaucoma and bilateral Wilms' tumor.
Barletta C, Castello MA, Ferrante E, Mavelli I, Clerico A, Ciriolo MR, Vignetti P. Tumori. 1985 Apr 30; 71(2):119-21.
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. [Ann Genet. 1980]
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Junien C, Turleau C, de Grouchy J, Saïd R, Rethoré MO L, Tenconi R, Dufier JL. Ann Genet. 1980; 23(3):165-8.
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Review Etiology of Wilms' tumor. [Epidemiol Rev. 1995]
Review Etiology of Wilms' tumor.
Sharpe CR, Franco EL. Epidemiol Rev. 1995; 17(2):415-32.

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Cited by 2 PubMed Central articles

Review Recently recognized chromosomal defects of clinical importance. [Postgrad Med J. 1986]
Review Recently recognized chromosomal defects of clinical importance.
Pembrey M, Baraitser M. Postgrad Med J. 1986 Feb; 62(724):131-42.
A deletion map of the WAGR region on chromosome 11. [Am J Hum Genet. 1989]
A deletion map of the WAGR region on chromosome 11.
Gessler M, Thomas GH, Couillin P, Junien C, McGillivray BC, Hayden M, Jaschek G, Bruns GA. Am J Hum Genet. 1989 Apr; 44(4):486-95.

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Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations.

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