Literature DB >> 1472355

Translocation/duplication of 9p onto a duplicated 4q.

H Rivera1, L E Figuera, A I Vasquez.   

Abstract

A 5-month-old girl with the classical dysmorphism of the 9p trisomy syndrome and a severe heart defect was found to have an unbalanced translocation of 9pter-->p22 onto q35 of a chromosome 4 with an inverted duplication of q32-->q35. This concurrence of two de novo rearrangements suggests that the breakpoint at 4q35 not only participated in the translocation but also predisposed to the segmental duplication of 4q.

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Mesh：

Year:  1992        PMID： 1472355

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  2 in total

1.  Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).

Authors:  B R Haddad; A E Lin; H Wyandt; A Milunsky
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

2.  A 9p13-->p24 duplication coupled with a whole 22q translocation onto 9p24.

Authors:  Horacio Rivera; Ana I Vásquez-Velásquez; Mariá de Lourdes Ramirez-Duenas; Luis Eduardo Becerra-Solano
Journal:  J Appl Genet       Date:  2007       Impact factor: 2.653
  2 in total

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