Literature DB >> 3978836

De novo t(4;5)(q3100;q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment.

H Rivera, A Rolón, J Sánchez-Corona, J M Cantú.   

Abstract

An 8-month-old boy with multiple malformations and psychomotor retardation was found to have a de novo t(4;5)(q1300;q2200) with del(5)(q1500q2200). The phenotypical comparison with 10 similar monosomic cases from the literature led us to tentatively delineate a 5q monosomy syndrome and to postulate the band 5q15 as the correspondent critical segment.

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Year:  1985        PMID： 3978836     DOI： 10.1111/j.1399-0004.1985.tb00193.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  Remarks on constitutional 5q deletions.

Authors:  H Rivera
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

2.  Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease.

Authors:  S V Hodgson; A S Coonar; P J Hanson; S Cottrell; P N Scriven; T Jones; P R Hawley; M L Wilkinson
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

3.  A constitutional 5q23 deletion.

Authors:  H Rivera; P Simi; S Rossi; L Pardelli; M C Di Paolo
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318
  3 in total

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