title: Detection of unbalanced chromosome segregations in preimplantation genetic diagnosis of translocations by short comparative genomic hibridization.
abstract: OBJECTIVE
  To apply a comprehensive chromosomal screening through short comparative genomic hybridization (CGH) in the preimplantation genetic diagnosis (PGD) of translocations.
  
  
  METHODS
  Clinical research study.
  
  
  METHODS
  A PGD laboratory and two IVF clinics.
  
  
  METHODS
  Three Robertsonian translocation carriers, two reciprocal translocation carriers, and a double-translocation carrier.
  
  
  METHODS
  After using the short-CGH approach in the reanalysis of two unbalanced embryos, discarded from a PGD for a reciprocal translocation carrier, the same method was applied in the PGD of day-3 embryos of translocation carriers.
  
  
  METHODS
  Ability of short CGH to detect partial chromosomal abnormalities in unbalanced embryos, translocation segregation proportions, and proportion of embryos carrying chromosomal abnormalities not related to the translocations.
  
  
  RESULTS
  The short-CGH technique detected errors resulting from the meiotic segregation of the chromosomes involved in the translocations and other abnormalities affecting the remaining chromosomes. Alternate segregation was detected most frequently among Robertsonian translocation cases, whereas unbalanced chromosome segregations were found predominantly in reciprocal ones. Aneuploidy and structural chromosome errors were found more frequently in Robertsonian than in reciprocal translocation carriers. Application of short-CGH PGD achieved pregnancy in two cases.
  
  
  CONCLUSIONS
  Short CGH is a reliable approach for PGD of translocations, as it is capable of detecting partial chromosome errors caused by unbalanced segregations simultaneously to the screening of all chromosomes, and it may improve the results after PGD for translocation carriers.
authors: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Spain.
authors: Mariona
authors: M
authors: Rius
authors: Albert
authors: A
authors: Obradors
authors: Gemma
authors: G
authors: Daina
authors: Laia
authors: L
authors: Ramos
authors: Aïda
authors: A
authors: Pujol
authors: Olga
authors: O
authors: Martínez-Passarell
authors: Laura
authors: L
authors: Marquès
authors: Maria
authors: M
authors: Oliver-Bonet
authors: Jordi
authors: J
authors: Benet
authors: Joaquima
authors: J
authors: Navarro