Literature DB >> 4367262

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

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

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 chromosomal variations not recognized by banding methods alone.

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Year:  1974        PMID： 4367262     DOI： 10.1126/science.185.4153.784

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  6 in total

1.  Small structural changes of chromosome 8. Two cases with evidence for deletion.

Authors:  C Beighle; L E Karp; J W Hanson; J G Hall; H Hoehn
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

2.  Computer-aided analysis of chromosomal aberrations occurring in an abnormal human karyotype.

Authors:  S Hazout; A M Venuat; A J Valleron; C Rosenfeld
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132

3.  Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

Authors:  Catherine Turleau; J de Grouchy; J L Dufier; Phuc Lè Hoang; P H Schmelck; R Rappaport; Claire Nihoul-Fékété; Nicole Diebold
Journal:  Hum Genet       Date:  1981-05       Impact factor: 4.132

4.  Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.

Authors:  K Narahara; K Kikkawa; S Kimira; H Kimoto; M Ogata; R Kasai; M Hamawaki; K Matsuoka
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 5.  Hereditary cancer: two hits revisited.

Authors:  A G Knudson
Journal:  J Cancer Res Clin Oncol       Date:  1996       Impact factor: 4.553

6.  The N-myc proto-oncogene and IGF-II growth factor mRNAs are expressed by distinct cells in human fetal kidney and brain.

Authors:  H Hirvonen; M Sandberg; H Kalimo; V Hukkanen; E Vuorio; T T Salmi; K Alitalo
Journal:  J Cell Biol       Date:  1989-03       Impact factor: 10.539
  6 in total

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