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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case

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Author(s):
Simioni, Milena [1] ; Steiner, Carlos Eduardo [1] ; Gil-da-Silva-Lopes, Vera Lucia [1]
Total Authors: 3
Affiliation:
[1] Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Campinas, SP - Brazil
Total Affiliations: 1
Document type: Journal article
Source: Gene; v. 573, n. 1, p. 166-170, NOV 15 2015.
Web of Science Citations: 4
Abstract

Reciprocal translocations are one of the most common structural rearrangements with a frequency of 1:500 and occur when there is an exchange of distal segments to breakpoints between non-homologous chromosomes. Two or three independent, simple reciprocal or Robertsonian translocations co-exist in the same carrier were classified as complex chromosome rearrangements (CCRs). Structural chromosome rearrangements are considered balanced when there is no apparent gain or loss of chromosome material. In majority of cases, apparently balanced structural chromosome rearrangements (ABCR) are not associated with abnormal phenotypes, although these have been described in 6% of de novo ABCR and 23% of apparently balanced CCR Here we report a patient with de novo two apparently balanced reciprocal translocations and two partial monosomies, one of these involving an independent chromosome characterized by microarray. Structural rearrangement investigations can improve the knowledge about human genome architecture and correlation of genomic imbalances to abnormal phenotype. (C) 2015 Elsevier B.V. All rights reserved. (AU)

FAPESP's process: 11/23794-7 - Investigative approach in cleft lip and palate and congenital cadiopathy related to 22q11.2 deletion syndrome using open array and aGH techniques
Grantee:Vera Lúcia Gil da Silva Lopes
Support type: Regular Research Grants
FAPESP's process: 12/10071-0 - Genomic study of apparently balanced chromosomal rearrangements in individuals with abnormal phenotype
Grantee:Milena Simioni de Carvalho
Support type: Scholarships in Brazil - Post-Doctorate