title: De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature.
abstract: OBJECTIVE
  To report a de novo exceptional complex chromosomal rearrangement (CCR) with four breakpoints in the male partner of a couple with recurrent abortions.
  
  
  METHODS
  Case report and review of the literature.
  
  
  METHODS
  Genetics laboratory in a private hospital.
  
  
  METHODS
  A couple referred for recurrent abortions.
  
  
  METHODS
  Cytogenetic and sperm fluorescence in situ hybridization (FISH) techniques.
  
  
  METHODS
  Karyotype and FISH sperm results.
  
  
  RESULTS
  The couple was phenotypically normal, with no family history of miscarriage or infertility. Female karyotype was normal. Male karyotype followed by FISH analysis showed a de novo CCR with four breakpoints: t(5,13,16)(q11.1, q14.3, q12.2), ins(16;13)(q12.2;q?q14.2). ish t(5;13;16)(wcp5+,wcp13+), ins(16;13)(wcp13+).
  
  
  CONCLUSIONS
  Exceptional de novo CCR male carriers with recurrent abortions are extremely rare. Patients with CCRs have limited options to achieve a normal pregnancy. Careful consideration and assessment should be provided upon counseling of couples with CCRs.
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Chantal
authors.initials: C
authors.lastname: Farra
authors.forename: Sylke
authors.initials: S
authors.lastname: Singer
authors.forename: Andreas
authors.initials: A
authors.lastname: Dufke
authors.forename: Hanine
authors.initials: H
authors.lastname: Ashkar
authors.forename: Carla
authors.initials: C
authors.lastname: Monsef
authors.forename: Johnny
authors.initials: J
authors.lastname: Awwad
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002869:Chromosome Aberrations; D056905:Chromosome Breakpoints; D002882:Chromosomes, Human, Pair 13; D002885:Chromosomes, Human, Pair 16; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005298:Fertility / Q000235:genetics*; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011247:Pregnancy; D011261:Pregnancy Trimester, First