Hum Genet. 1981;57(3):300-6.

Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

Turleau C, de Grouchy J, Dufier JL, Phuc LH, Schmelck PH, Rappaport R, Nihoul-Fékété C, Diebold N.

Abstract

A 20-month-old male patient was referred because of severe growth and mental retardation, bilateral glaucoma, hypospadias, and cryptorchidism. Karyotyping revealed a de novo complex three-chromosome rearrangement as well as deletion of band 11p13:46,XY,t(4;7;15)(q212;p14;q26)del(11)(p13p14). Trabeculectomia revealed bilateral aniridia. Surgery on the genitalia revealed male pseudohermaphroditism and bilateral gonadoblastoma. The kidneys were normal. A deficiency in catalase (CAT) activity allowed the regional assignment of the CAT gene to band 11p13.

PMID:: 6114032; [PubMed - indexed for MEDLINE]

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Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. [Ann Genet. 1980]
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex.
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Cited by 2 PubMed Central articles

The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor. [Am J Hum Genet. 1985]
The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor.
Scoggin CH, Fisher JH, Shoemaker SA, Morse H, Leigh T, Riccardi VM. Am J Hum Genet. 1985 Sep; 37(5):883-9.
Differential DNA sequence deletions from chromosomes 3, 11, 13, and 17 in squamous-cell carcinoma, large-cell carcinoma, and adenocarcinoma of the human lung. [Proc Natl Acad Sci U S A. 1989]
Differential DNA sequence deletions from chromosomes 3, 11, 13, and 17 in squamous-cell carcinoma, large-cell carcinoma, and adenocarcinoma of the human lung.
Weston A, Willey JC, Modali R, Sugimura H, McDowell EM, Resau J, Light B, Haugen A, Mann DL, Trump BF. Proc Natl Acad Sci U S A. 1989 Jul; 86(13):5099-103.

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