Literature DB >> 6604493

Trisomy 20p due to a paternal reciprocal translocation.

S J Funderburk, R S Sparkes, M C Sparkes.   

Abstract

A mentally retarded boy with multiple malformations was found to have trisomy for the distal two-thirds of the short arm of chromosome 20 (trisomy 20p), resulting from a paternal translocation (5;20)(p15;p11). The patient had a cleft palate, a feature not present in other trisomy 20p patients. A review of the reported trisomy 20p patients indicates that their varied features do no constitute a readily recognizable clinical syndrome.

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Year:  1983        PMID: 6604493

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  3 in total

Review 1.  The map of chromosome 20.

Authors:  N E Simpson
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

2.  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

3.  Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons.

Authors:  K B Nielsen; N Tommerup; B Jespersen; P Nygaard; L Kleif
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

  3 in total

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