Literature DB >> 613291

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

S R Andersen, P Geertinger, H W Larsen, M Mikkelsen, A Parving, S Vestermark, M Warburg.   

Abstract

A case of bilateral aniridia, cataract and mental deficiency is described in a girl with an interstitial deletion of the short arm of chromosome 11. The child died of pneumonia and on autopsy bilateral gonadoblastoma was detected, but no Wilms' tumour. Partial deletion of the short arm of chromosome 11 seems to be a clinically recognizable syndrome with aniridia, cataract and renal, gonadal or genital dysmorphogenesis.

Entities:  

Mesh：

Year:  1977        PMID： 613291     DOI： 10.1159/000308711

Source DB:  PubMed          Journal:  Ophthalmologica        ISSN： 0030-3755            Impact factor:   3.250


  15 in total

1.  Retinal detachment with giant oral dialysis in an eye with congenital aniridia.

Authors:  Yukiko Hama; Akito Hirakata; Kaoru Tomita; Makoto Inoue
Journal:  Jpn J Ophthalmol       Date:  2010-02-12       Impact factor: 2.447

2.  Congenital ocular and other systemic abnormalities associated with ring-11 chromosome.

Authors:  S Daniele; F Pecorelli; L Tiepolo; R Armellini; F S Liotti
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1986       Impact factor: 3.117

3.  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

4.  Aniridia and mental retardation with deletion of the short arm of chromosome 11.

Authors:  M I Kaiser-Kupfer; B J White; N Papadopoulos
Journal:  Trans Am Ophthalmol Soc       Date:  1981

5.  Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome.

Authors:  C Turleau; P Niaudet; C Sultan; G Rault; A Mahfoud; C Nihoul-Fekete; L Iris; J de Grouchy
Journal:  Hum Genet       Date:  1987-01       Impact factor: 4.132

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

Authors:  L Jadresic; R B Wadey; B Buckle; T M Barratt; C D Mitchell; J K Cowell
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

7.  Blue light hazard and aniridia.

Authors:  R V Abadi; C M Dickinson
Journal:  Br J Ophthalmol       Date:  1985-03       Impact factor: 4.638

8.  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

9.  Wilms's tumour and aniridia: clinical and cytogenetic features.

Authors:  R S Shannon; J R Mann; E Harper; D G Harnden; J E Morten; A Herbert
Journal:  Arch Dis Child       Date:  1982-09       Impact factor: 3.791

10.  Chromosome deletion and multiple cartilaginous exostoses.

Authors:  E M Bühler; U K Bühler; G R Stalder; L Jani; L P Jurik
Journal:  Eur J Pediatr       Date:  1980-03       Impact factor: 3.183
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