title: Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions.
abstract: OBJECTIVE
  To determine the prevalence and type of Yq microdeletions in 86 consecutive men that fathered 99 sons by intracytoplasmic sperm injection (ICSI) and to determine the incidence of vertical transmission and de novo deletions in these boys.
  
  
  METHODS
  Prospective clinical observational study.
  
  
  METHODS
  Genetics laboratory associated with a university IVF unit.
  
  
  METHODS
  Eighty-six consecutive infertile men presenting to an IVF clinic and their 99 ICSI-conceived sons. Fifty of the 86 men (58%) had idiopathic seminiferous tubule failure (STF); the remainder had a variety of other clinical indications for ICSI.
  
  
  METHODS
  Collection of peripheral and cord blood samples.
  
  
  METHODS
  The Yq genetic status of fathers who underwent ICSI and of their sons by the presence or absence of 22 Y-specific markers covering the four azoospermia factor (AZF) subregions.
  
  
  RESULTS
  Yq deletions of the AZFd/c region were detected in two (6.9%) of 29 azoo- or severely oligospermic men with STF. Identical deletions were found in their respective sons. No de novo deletions were detected in the remaining 97 sons conceived by men without deletions.
  
  
  CONCLUSIONS
  The detection of Yq deletions only in men with severe STF is consistent with previous studies, with the AZFd/c region being most commonly affected. This study demonstrates the vertical transmission of these Yq deletions through the use of ICSI and supports the notion that, in most cases, Yq deletions will be inherited by male offspring. The absence of de novo Yq deletions in the male offspring indicates that these events are rare following ICSI in men with both STF and other common male factor indications.
authors.affiliation: Monash IVF, Melbourne, Victoria, Australia. David.Cram@med.monash.edu.au
authors.forename: D S
authors.initials: DS
authors.lastname: Cram
authors.forename: K
authors.initials: K
authors.lastname: Ma
authors.forename: S
authors.initials: S
authors.lastname: Bhasin
authors.forename: J
authors.initials: J
authors.lastname: Arias
authors.forename: M
authors.initials: M
authors.lastname: Pandjaitan
authors.forename: B
authors.initials: B
authors.lastname: Chu
authors.forename: M S
authors.initials: MS
authors.lastname: Audrins
authors.forename: D
authors.initials: D
authors.lastname: Saunders
authors.forename: F
authors.initials: F
authors.lastname: Quinn
authors.forename: D
authors.initials: D
authors.lastname: deKretser
authors.forename: R
authors.initials: R
authors.lastname: McLachlan
mesh_terms: D005220:Fathers; D017353:Gene Deletion; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics; D011446:Prospective Studies; D012671:Seminiferous Tubules; D020554:Sperm Injections, Intracytoplasmic; D013733:Testicular Diseases / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics*