title: Preimplantation genetic diagnosis (PGD) for extremes--successful birth after PGD for a consanguineous couple carrying an identical balanced reciprocal translocation.
abstract: OBJECTIVE
  To report a healthy birth after preimplantation genetic diagnosis (PGD) performed for a consanguineous couple carrying an identical familial reciprocal translocation in both partners.
  
  
  METHODS
  Case report.
  
  
  METHODS
  In vitro fertilization (IVF) clinic and genetic laboratory in a private hospital.
  
  
  METHODS
  Consanguineous couple carrying the same balanced reciprocal translocation: 46,XX,t(1;16)(q12;q11.2) and 46,XY,t(1;16)(q12;q11.2).
  
  
  METHODS
  25 oocyte-cumulus complexes were retrieved 36 hours after human chorionic gonadotropin injection; metaphase II oocytes were fertilized by intracytoplasmic sperm injection; single blastomere biopsy was performed on 15 embryos on day 3; one embryo was found to be normal or balanced according to fluorescent in situ hybridization studies, embryo transfer was performed on day 4.
  
  
  METHODS
  Healthy birth of homozygous double translocation carrier twins with 46,XY,t(1;16)(q12;q11.2)mat,t(1;16)(q12;q11.2)pat karyotype.
  
  
  RESULTS
  Healthy monozygotic male twins were born at 36 weeks of gestation. Karyotype studies of the babies revealed that they are double translocation homozygotes: 46,XY,t(1;16)(q12;q11.2)mat,t(1;16)(q12;q11.2)pat. They are healthy and more than 4 years old later show no physical or mental abnormalities.
  
  
  CONCLUSIONS
  To our knowledge, this is the first PGD study performed for a couple who carry the same reciprocal translocation. The twins born after this study are rare examples in the literature of healthy balanced reciprocal translocation homozygotes.
authors.affiliation: Reproductive Genetics Laboratory, Istanbul Memorial Hospital, 34385 Sisli, Istanbul, Turkey. cagribeyazyurek@gmail.com
authors.forename: Cagri
authors.initials: C
authors.lastname: Beyazyurek
authors.forename: Cumhur Gokhan
authors.initials: CG
authors.lastname: Ekmekci
authors.forename: Yaman
authors.initials: Y
authors.lastname: Sağlam
authors.forename: Cigdem
authors.initials: C
authors.lastname: Cinar
authors.forename: Semra
authors.initials: S
authors.lastname: Kahraman
mesh_terms: D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D003241:Consanguinity; D005191:Family Characteristics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D050498:Live Birth; D008297:Male; D011247:Pregnancy; D011272:Pregnancy, Multiple; D019836:Preimplantation Diagnosis; D014178:Translocation, Genetic; D016896:Treatment Outcome; D014427:Twins