Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome.
A chromosome translocation, t(8p + ; 11q -), in a patient with aniridia and Wilms' tumor, appeared balanced by standard techniques, including trypsin banding. Computer analysis of optical microscope scanning profiles of chromosome pairs 8 and 11 revealed an interstitial deletion of the short arm of 8. Computer analysis coupled to the new banding techniques provides greater resolution for the detection of subtle chromosomal variations not recognized by banding methods alone.
D000015:Abnormalities, Multiple / Q000235:genetics; D002386:Cataract / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003936:Diagnosis, Computer-Assisted; D005901:Glaucoma / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D013577:Syndrome; D009396:Wilms Tumor / Q000235:genetics*