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

Autor(es)

Simioni, Milena ^[1] ; Steiner, Carlos Eduardo ^[1] ; Gil-da-Silva-Lopes, Vera Lucia ^[1]

Afiliação do(s) autor(es)

^[1] Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Campinas, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Gene; v. 573, n. 1, p. 166-170, NOV 15 2015.
• Citações Web of Science: 4

Resumo

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)

• Processo FAPESP: 11/23794-7 - Abordagem investigativa em fendas labiopalatais e cardiopatias congênitas relacionadas à síndrome de deleção 22q11.2 por meio das técnicas de open array e aGH
• Beneficiário: Vera Lúcia Gil da Silva Lopes
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 12/10071-0 - Estudo genômico de rearranjos cromossômicos aparentemente equilibrados em indivíduos com fenótipo anormal
• Beneficiário: Milena Simioni de Carvalho
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado