Literature DB >> 495652

Triplication of chromosome arm 20p due to inherited translocation and secondary nondisjunction.

E S Marcus, B Fuller, V M Riccardi.   

Abstract

A patient with triplication of all of chromosome arm 20p is presented to illustrate the relatively modest degree of developmental delay that can result from autosomal triplication and the role of nondisjunction as a mechanism for deriving a partial triplication status.

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Year:  1979        PMID: 495652     DOI: 10.1002/ajmg.1320040107

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.

Authors:  Érika L Freitas; Susan M Gribble; Milena Simioni; Társis P Vieira; Roseane L Silva-Grecco; Marly A S Balarin; Elena Prigmore; Ana C Krepischi-Santos; Carla Rosenberg; Karoly Szuhai; Arie van Haeringen; Nigel P Carter; Vera Lúcia Gil-da-Silva-Lopes
Journal:  Am J Med Genet A       Date:  2011-09-21       Impact factor: 2.802

  1 in total

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