Literature DB >> 6114032

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

C Turleau, J de Grouchy, J L Dufier, L H Phuc, P H Schmelck, R Rappaport, C Nihoul-Fékété, N Diebold.   

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.

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Year:  1981        PMID： 6114032

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

1.  Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

Authors:  J W Moore; S Hyman; S E Antonarakis; E H Mules; G H Thomas
Journal:  Hum Genet       Date:  1986-04       Impact factor: 4.132

2.  Differential DNA sequence deletions from chromosomes 3, 11, 13, and 17 in squamous-cell carcinoma, large-cell carcinoma, and adenocarcinoma of the human lung.

Authors:  A Weston; J C Willey; R Modali; H Sugimura; E M McDowell; J Resau; B Light; A Haugen; D L Mann; B F Trump
Journal:  Proc Natl Acad Sci U S A       Date:  1989-07       Impact factor: 11.205

3.  Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.

Authors:  K Narahara; K Kikkawa; S Kimira; H Kimoto; M Ogata; R Kasai; M Hamawaki; K Matsuoka
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  High-resolution studies in patients with aniridia-Wilms tumor association, Wilms tumor or related congenital abnormalities.

Authors:  Y Nakagome; T Ise; M Sakurai; T Nakajo; E Okamoto; T Takano; Y Nakahori; Y Tsuchida; N Nagahara; Y Takada
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene.

Authors:  M Drechsler; E J Meijers-Heijboer; S Schneider; B Schurich; C Grond-Ginsbach; G Tariverdian; G Kantner; A Blankenagel; D Kaps; T Schroeder-Kurth
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

6.  Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity.

Authors:  N Niikawa; Y Fukushima; N Taniguchi; S Iizuka; T Kajii
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  Cytogenetic replication studies on murine T-cell leukemias with special consideration to chromosome 15.

Authors:  I E Somssich; J Spira; H Hameister; G Klein
Journal:  Chromosoma       Date:  1982       Impact factor: 4.316

8.  The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor.

Authors:  C H Scoggin; J H Fisher; S A Shoemaker; H Morse; T Leigh; V M Riccardi
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

9.  Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor.

Authors:  K O Simola; S Knuutila; I Kaitila; A Pirkola; P Pohja
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  Unusual Presentation in WAGR Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Diseases.

Authors:  Qiwei Wang; Xulin Zhang; Tingfeng Qin; Dongni Wang; Xiaoshan Lin; Yuanyuan Zhu; Haowen Tan; Lanqin Zhao; Jing Li; Zhuoling Lin; Haotian Lin; Weirong Chen
Journal:  Genes (Basel)       Date:  2022-08-12       Impact factor: 4.141
  10 in total

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