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

doi:10.1126/science.185.4153.784

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

Department of Pediatrics

Research output: Contribution to journal › Article › peer-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 language	English (US)
Pages (from-to)	784-787
Number of pages	4
Journal	Science
Volume	185
Issue number	4153
DOIs	https://doi.org/10.1126/science.185.4153.784
State	Published - Jan 1 1974

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10.1126/science.185.4153.784

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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.",

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AU - Atkins, L.

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AU - Neurath, P.

AU - Marimuthu, K. M.

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AB - 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.

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

Abstract

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