Aniridia and Wilms' tumor in a child constitutionally mosaic for 11p-;12q+: a new chromosomal change also present in Wilms' tumor cells of the blastema type.
A child with congenital aniridia was assessed closely, by repeated abdominal ultrasound examinations, beginning at birth. The Wilms' tumor subsequently discovered and removed was analyzed karyotypically and found to have some cells with a terminal deletion of chromosome 11; in other cells this deletion was associated with a duplication in the long arm of chromosome 12. These findings were identical to those observed in the patient's peripheral blood mononuclear cells. This case further substantiates the association between changes in chromosome 11 and Wilms' tumor and demonstrates how chromosomal abnormalities in early infancy may lead to the development of Wilms' tumor.
D002477:Cells / Q000145:classification; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D007680:Kidney Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009030:Mosaicism; D009396:Wilms Tumor / Q000150:complications / Q000235:genetics* / Q000473:pathology