title: Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males.
abstract: OBJECTIVE
  To assess whether to perform routine cytogenetic and Y chromosome microdeletion screening on all infertile male patients.
  
  
  METHODS
  A cytogenetic and Y microdeletion study of a random group of infertile men.
  
  
  METHODS
  University department.
  
  
  METHODS
  In total, 40 patients had azoospermia (21 nonidiopathic), 27 had severe oligozoospermia/oligoasthenozoospermia (<or=5 x 10(6)/mL) (5 nonidiopathic), 20 had oligozoospermia/oligoasthenozoospermia (5-20 x 10(6)/mL) (6 nonidiopathic), and 16 had asthenozoospermia (5 nonidiopathic). Many were candidates for intracytoplasmic sperm injection (ICSI).
  
  
  METHODS
  Collection of blood samples from all patients and buccal cells from one patient.
  
  
  METHODS
  Karyotype analysis, polymerase chain reaction (PCR) screening for Y chromosome microdeletions, and fluorescence in situ hybridization of abnormal chromosomes.
  
  
  RESULTS
  Ten (9.7%) subjects, including one nonidiopathic patient, were found to have an abnormal karyotype. Two idiopathic azoospermic patients were missing large portions of Y chromosome euchromatin, confirmed by PCR analysis and an additional idiopathic azoospermic patient had a Y chromosome microdeletion.
  
  
  CONCLUSIONS
  Routine cytogenetic analysis of all infertile male patients is required but it may be advisable to limit routine Y chromosome microdeletion screening to patients with severe male factor infertility (<or=5 x 10(6)/mL).
authors.affiliation: The Galton Laboratory, University College London (UCL), NW1 2HE, London, United Kingdom. crq20@cam.ac.uk
authors.forename: Claire R
authors.initials: CR
authors.lastname: Quilter
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Svennevik
authors.forename: Paul
authors.initials: P
authors.lastname: Serhal
authors.forename: David
authors.initials: D
authors.lastname: Ralph
authors.forename: Gulam
authors.initials: G
authors.lastname: Bahadur
authors.forename: Richard
authors.initials: R
authors.lastname: Stanhope
authors.forename: Marc
authors.initials: M
authors.lastname: Sütterlin
authors.forename: Joy D A
authors.initials: JD
authors.lastname: Delhanty
authors.forename: Kay E
authors.initials: KE
authors.lastname: Taylor
mesh_terms: D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009687:Nuclear Proteins; D009845:Oligospermia / Q000145:classification / Q000235:genetics; D016133:Polymerase Chain Reaction; D011897:Random Allocation; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors