title: Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literature.
abstract: OBJECTIVE
  To analyze unusual translocations involving a chromosome 1 whole arm and an acrocentric G chromosome p arm found in two men with azoospermia.
  
  
  METHODS
  Case report with review of the scientific literature.
  
  
  METHODS
  Cytogenetics department.
  
  
  METHODS
  Two men with azoospermia and normal hormonal levels.
  
  
  METHODS
  Peripheral blood lymphocytes were obtained for karyotype, and metaphases were studied by standard GBG, RBG, and CBG banding procedures.
  
  
  METHODS
  Karyotype GBG, RBG, and CBG banding.
  
  
  RESULTS
  Karyotype revealed balanced translocation involving a chromosome 1 whole arm and an acrocentric G chromosome p arm: 46,XY,t(1;21)(q11;p13) (patient 1) and 46,XY,t(1;22)(q11;p11) (patient 2).
  
  
  CONCLUSIONS
  With regard to published cases of whole-arm translocation of human chromosome 1 with an acrocentric p arm and a maternal origin of these abnormalities, we argue for an impairment of meiosis resulting in a high probability of quadrivalent-XY-body interaction. Male factor infertility might be due to two poor prognostic factors, first the involvement of human chromosome 1 (and its heterochromatic region) and second the involvement of an acrocentric chromosome p-arm breakpoint. This probable interaction between the pachytene quadrivalent and XY body might explain azoospermia.
authors.affiliation: Laboratoire de Cytogenetique, Hôpital Saint Antoine, Paris, France. fvialard@hotmail.com
authors.forename: François
authors.initials: F
authors.lastname: Vialard
authors.forename: Marc
authors.initials: M
authors.lastname: Nouchy
authors.forename: Valérie
authors.initials: V
authors.lastname: Malan
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Taillemite
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Selva
authors.forename: Marie-France
authors.initials: MF
authors.lastname: Portnoï
mesh_terms: D000328:Adult; D002904:Chromosomes, Human, 21-22 and Y / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000150:complications / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*