Computer-assisted analysis of chromosomal abnormalities: Detection of a deletion in aniridia/Wilms' tumor syndrome

Roger Ladda, L. Atkins, J. Littlefield, P. Neurath, K. M. Marimuthu

Research output: Contribution to journalArticlepeer-review

41 Scopus citations

Abstract

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 chromnosomal variations not recognized by banding methods alone.

Original languageEnglish (US)
Pages (from-to)784-787
Number of pages4
JournalScience
Volume185
Issue number4153
DOIs
StatePublished - Jan 1 1974

All Science Journal Classification (ASJC) codes

  • General

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