Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1.
A report of a family with two half-brothers and a maternal aunt affected with the aniridia-Wilms tumor syndrome is presented. The proband showed a deletion of most of band 11p13 and of subband 11p14.1 of one chromosome 11, and the proband's mother and an older brother, both phenotypically normal, showed a balanced chromosomal rearrangement. This family demonstrates that deletion of a small chromosome segment (11p13-14.1) is responsible for the aniridia-Wilms tumor syndrome and, that in some cases, the syndrome can be familial.
D000015:Abnormalities, Multiple / Q000150:complications*; D000293:Adolescent; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome; D009396:Wilms Tumor / Q000150:complications / Q000235:genetics*