Aniridia, Cataract and Gonadoblastoma in a Mentally Retarded Girl with Deletion of Chromosome 11
- 1 January 1978
- journal article
- research article
- Published by S. Karger AG in Ophthalmologica
- Vol. 176 (3) , 171-177
- https://doi.org/10.1159/000308711
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'' tumor. Partial deletion of the short arm of chromosome 11 seemingly is a clinically recognizable syndrome with aniridia, cataract and renal, gonadal or genital dysmorphogenesis.This publication has 2 references indexed in Scilit:
- Three sisters with gonadoblastoma.Journal of Medical Genetics, 1977
- Congenital Malformations of the EyeJAMA, 1966