title: Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male.
abstract: BACKGROUND
  Whole arm t(9;13)(p11;p12) translocations are rare and have been described only a few times; all of the previously reported cases were familial.
  
  
  RESULTS
  We present here an infertile male carrier with a whole-arm reciprocal translocation dic(9;13)(p11.2;p12) revealed by GTG-, C-, and NOR-banding karyotypes with no mature sperm cells in his ejaculate. FISH and genome-wide 400 K CGH microarray (Agilent) analyses demonstrated a balanced chromosome complement and further characterised the abnormality as a dicentric chromosome (9;13): dic(9;13)(pter→p11.2::p12→qter),neo(9)(pter→p12→neo→p11.2). An analysis of the patient's ejaculated cells identified immature germ cells at different phases of spermatogenesis but no mature spermatozoa. Most (82.5%) of the germ cells were recognised as spermatocytes at stage I, and the cell nuclei were most frequently found in pachytene I (41.8%). We have also undertaken FISH analysis and documented an increased rate of aneuploidy of chromosomes 15, 18, X and Y in the peripheral blood leukocytes of our patient. To study the aneuploidy risk in leukocytes, we have additionally included 9 patients with non-obstructive azoospermia with normal karyotypes.
  
  
  CONCLUSIONS
  We propose that the azoospermia observed in the patient with the dic(9;13)(p11.2;p12) translocation was most likely a consequence of a very high proportion (90%) of association between XY bivalents and quadrivalent formations in prophase I.
authors.forename: Ewa
authors.initials: E
authors.lastname: Wiland
authors.forename: Marta
authors.initials: M
authors.lastname: Olszewska
authors.forename: Andrew
authors.initials: A
authors.lastname: Georgiadis
authors.forename: Nataliya
authors.initials: N
authors.lastname: Huleyuk
authors.forename: Barbara
authors.initials: B
authors.lastname: Panasiuk
authors.forename: Danuta
authors.initials: D
authors.lastname: Zastavna
authors.forename: Svetlana A
authors.initials: SA
authors.lastname: Yatsenko
authors.forename: Piotr
authors.initials: P
authors.lastname: Jedrzejczak
authors.forename: Alina T
authors.initials: AT
authors.lastname: Midro
authors.forename: Alexander N
authors.initials: AN
authors.lastname: Yatsenko
authors.affiliation: Institute of Human Genetics Polish Academy of Sciences, Department of Reproductive Biology and Stem Cells, Strzeszynska 32, Poznan 60-479, Poland. kurpimac@man.poznan.pl.
authors.forename: Maciej
authors.initials: M
authors.lastname: Kurpisz