Literature DB >> 28035502

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

Catherine Turleau1,2, J de Grouchy1,2, J L Dufier3, Phuc Lè Hoang3, P H Schmelck4, R Rappaport4, Claire Nihoul-Fékété5, Nicole Diebold6.   

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.

Entities:  

Year:  1981        PMID： 28035502     DOI： 10.1007/BF00278949

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


  18 in total

1.  [Wilms' nephroblastoma and congenital renal diseases in the case reports of the Istituto Provinciale di Protezione ed Assistenza dell'Infanzia di Milano].

Authors:  P BRUSA; C TORRICELLI
Journal:  Minerva Pediatr       Date:  1953-06-30       Impact factor: 1.312

2.  Aniridia caused by a heritable chromosome 11 deletion.

Authors:  H M Hittner; V M Riccardi; U Francke
Journal:  Ophthalmology       Date:  1979-06       Impact factor: 12.079

3.  The role of genetic factors in the etiology of Wilms' tumor: two pairs of monozygous twins with congenital abnormalities (aniridia; hemihypertrophy) and discordance for Wilms' tumor.

Authors:  H S Maurer; T W Pendergrass; W Borges; G R Honig
Journal:  Cancer       Date:  1979-01       Impact factor: 6.860

4.  Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome.

Authors:  R Ladda; L Atkins; J Littlefield; P Neurath; K M Marimuthu
Journal:  Science       Date:  1974-08-30       Impact factor: 47.728

5.  Human gene mapping 5. Edinburgh conference (1979). Fifth International Workshop on Human Gene Mapping.

Authors: 
Journal:  Cytogenet Cell Genet       Date:  1979

6.  Aniridia and interstitial deletion of the short arm of chromosome 11.

Authors:  M Warburg; M Mikkelsen; S R Andersen; P Geertinger; H W Larsen; S Vestermark; A Parving
Journal:  Metab Pediatr Ophthalmol       Date:  1980

7.  Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13.

Authors:  U Francke; L B Holmes; L Atkins; V M Riccardi
Journal:  Cytogenet Cell Genet       Date:  1979

8.  Gene dose effect: intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p.

Authors:  U Francke; D L George; M G Brown; V M Riccardi
Journal:  Cytogenet Cell Genet       Date:  1977

9.  Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex.

Authors:  C Junien; C Turleau; J de Grouchy; R Saïd; L Rethoré MO; R Tenconi; J L Dufier
Journal:  Ann Genet       Date:  1980

10.  Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report.

Authors:  S R Andersen; P Geertinger; H W Larsen; M Mikkelsen; A Parving; S Vestermark; M Warburg
Journal:  Ophthalmologica       Date:  1977       Impact factor: 3.250
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