title: [Y chromosome microdeletions in infertile male candidates for microfertilization].
abstract: BACKGROUND
  Y chromosome microdeletions are the second most frequent genetic cause of male infertility after Klinefelter's syndrome.
  
  
  OBJECTIVE
  The aim of the study was to determine the frequency ofY chromosome microdeletions in a group of infertile men with an idiophatic cause of infertility, candidates for microfertilization (Intra-cytoplasmic Sperm Injection--ICSI) in Serbia and to correlate genotype-phenotype in patients with Y chromosome microdeletions.
  
  
  METHODS
  One hundred and sixty patients with low sperm count (less than 5 x 10(6) spermatozoa/ml) were enrolled in the study. Forty patients were excluded from the study: ten because they were diagnosed with cytogenetic abnormality and thirty patients were diagnosed with other known causes of infertility. The control group consisted of 150 men who fathered at least one child in the last two years. Genomic DNA was extracted from peripheral blood samples and two multiplex polymerase chain reactions (PCR) analyses were performed using specific primers to confirm the presence or absence of Y chromosome microdeletions.
  
  
  RESULTS
  Microdeletions were detected in 12 of 120 (10%) cases, while no deletions were detected in the control group. Of total number of 12 deletions, nine were detected in AZFc region (75%), one in AZFa (8%), and two in AZFbc (17%).
  
  
  CONCLUSIONS
  Testing for Y chromosome microdeletions should be considered as an important element in diagnosis and genetic counselling of infertile couples in Serbia. Decisions regarding the assisted reproduction should be made based on the detailed clinical, endocrinological and cytogenetic examinations, spermogram, presence or absence and type of AZF microdeletions and CFTR gene mutations.
authors: Momcilo
authors: M
authors: Ristanović
authors: Vera
authors: V
authors: Bunjevacki
authors: Cane
authors: C
authors: Tulić
authors: Ivana
authors: I
authors: Novaković
authors: Tatjana
authors: T
authors: Ille
authors: Dragica
authors: D
authors: Radojković
authors: Aleksandra
authors: A
authors: Nikolić
mesh_terms: D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000628:therapy; D008297:Male; D029589:Seminal Plasma Proteins / Q000235:genetics; D012729:Sex Chromosome Aberrations; D020554:Sperm Injections, Intracytoplasmic
chemical_list: D029589:Seminal Plasma Proteins