title: Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos- preliminary observations of two robertsonian translocation carrier families.
abstract: OBJECTIVE
  Preimplantation genetic diagnosis using fluorescence in-situ hybridization (PGD-FISH) is currently the most common reproductive solution for translocation carriers. However, this technique usually does not differentiate between embryos carrying the balanced form of the translocation and those carrying the homologous normal chromosomes. We developed a new application of preimplantation genetic haplotyping (PGH) that can identify and distinguish between all forms of the translocation status in cleavage stage embryos prior to implantation.
  
  
  METHODS
  Polymorphic markers were used to identify and differentiate between the alleles that carry the translocation and those that are the normal homologous chromosomes.
  
  
  RESULTS
  Embryos from two families of robertsonian translocation carriers were successfully analyzed using polymorphic markers haplotyping.
  
  
  CONCLUSIONS
  Our preliminary results indicate that the PGH is capable of distinguishing between normal, balanced and unbalanced translocation carrier embryos. This method will improve PGD and will enable translocation carriers to avoid transmission of the translocation and the associated medical complications to offspring.
authors.affiliation: Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, Ramat Gan, 52621, Israel. janashamash@gmail.com
authors.forename: Jana
authors.initials: J
authors.lastname: Shamash
authors.forename: Shlomit
authors.initials: S
authors.lastname: Rienstein
authors.forename: Haike
authors.initials: H
authors.lastname: Wolf-Reznik
authors.forename: Elon
authors.initials: E
authors.lastname: Pras
authors.forename: Michal
authors.initials: M
authors.lastname: Dekel
authors.forename: Talia
authors.initials: T
authors.lastname: Litmanovitch
authors.forename: Masha
authors.initials: M
authors.lastname: Brengauz
authors.forename: Boleslav
authors.initials: B
authors.lastname: Goldman
authors.forename: Hagith
authors.initials: H
authors.lastname: Yonath
authors.forename: Jehoshua
authors.initials: J
authors.lastname: Dor
authors.forename: Jacob
authors.initials: J
authors.lastname: Levron
authors.forename: Ayala
authors.initials: A
authors.lastname: Aviram-Goldring
mesh_terms: D010064:Embryo Implantation; D047108:Embryonic Development; D005260:Female; D005307:Fertilization in Vitro; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007246:Infertility / Q000628:therapy; D008297:Male; D021141:Nucleic Acid Amplification Techniques; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic