title: Delineating the association between isodicentric chromosome Y and infertility: a retrospective study.
abstract: OBJECTIVE
  To report on 14 infertile patients who had a de novo form of the same isodicentric (idic)(Yq) karyotype with variable degrees of mosaicism.
  
  
  METHODS
  Retrospective study and review of the literature.
  
  
  METHODS
  Medical genetics laboratory in a research institute for reproductive biomedicine.
  
  
  METHODS
  Fourteen infertile patients, including 13 male patients and 1 female patient who had infertility with the same idic(Y) karyotype.
  
  
  METHODS
  Conventional cytogenetic methods, fluorescence in situ hybridization (FISH) on seminal germ cells and blood, and polymerase chain reaction (PCR)-based molecular approaches.
  
  
  METHODS
  Karyotype, FISH, and PCR results.
  
  
  RESULTS
  Cytogenetic results revealed abnormal Y chromosome: 45,X/46,X,idic(Y)(q11.22). The FISH technique on blood lymphocytes confirmed a rearranged Y chromosome, with two centromeres and two SRY signals, and marker chromosome with various levels of mosaicism. Moreover, aneuploidy of sex chromosomes was also detected in haploid seminal germ cells. Multiplex PCR analysis of blood samples demonstrated microdeletion in AZFb and AZFc loci.
  
  
  CONCLUSIONS
  Because of the resemblance between inversion of chromosome Y and idics(Y), use of confirmatory techniques (e.g., FISH or PCR-based methods) could help prevent medical errors in healthcare systems and precisely delineate chromosomal aberrations in infertile patients when clinical data fail to clarify the cause of infertility.
authors: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, The Academic Center for Education, Culture and Research (ACECR), Tehran, Iran.
authors: Hamid
authors: H
authors: Kalantari
authors: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, The Academic Center for Education, Culture and Research (ACECR), Tehran, Iran.
authors: Saba
authors: S
authors: Asia
authors: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, The Academic Center for Education, Culture and Research (ACECR), Tehran, Iran.
authors: Mehdi
authors: M
authors: Totonchi
authors: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, The Academic Center for Education, Culture and Research (ACECR), Tehran, Iran.
authors: Hamed
authors: H
authors: Vazirinasab
authors: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, The Academic Center for Education, Culture and Research (ACECR), Tehran, Iran.
authors: Zahra
authors: Z
authors: Mansouri
authors: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, The Academic Center for Education, Culture and Research (ACECR), Tehran, Iran.
authors: Shabnam
authors: S
authors: Zarei Moradi
authors: Department of Pathobiology, Faculty of Medicine, Alborz University of Medical Science, Karaj, Iran.
authors: Kaveh
authors: K
authors: Haratian
authors: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, The Academic Center for Education, Culture and Research (ACECR), Tehran, Iran.
authors: Hamid
authors: H
authors: Gourabi
authors: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, The Academic Center for Education, Culture and Research (ACECR), Tehran, Iran. Electronic address: anahitamohseni@gmail.com.
authors: Anahita
authors: A
authors: Mohseni Meybodi
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D008297:Male; D012189:Retrospective Studies; D012729:Sex Chromosome Aberrations
keywords: Mosaicism; azoospermia; fluorescence in situ hybridization (FISH); isodicentric Yq chromosome; multiplex PCR; semen germ cells