title: De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case.
abstract: Reciprocal translocations are one of themost 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.
authors: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas - UNICAMP, Campinas, SP, Brazil.
authors: Milena
authors: M
authors: Simioni
authors: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas - UNICAMP, Campinas, SP, Brazil.
authors: Carlos Eduardo
authors: CE
authors: Steiner
authors: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas - UNICAMP, Campinas, SP, Brazil. Electronic address: vlopes@fcm.unicamp.br.
authors: Vera Lúcia
authors: VL
authors: Gil-da-Silva-Lopes
mesh_terms: D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D014178:Translocation, Genetic
keywords: Apparently balanced chromosome rearrangements; Complex chromosome rearrangements; Microarray; Reciprocal translocation