Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report.
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.
D002386:Cataract / Q000150:complications / Q000235:genetics*; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D004407:Dysgerminoma / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007498:Iris / Q000002:abnormalities*; D010051:Ovarian Neoplasms / Q000150:complications / Q000235:genetics*