title: Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection.
abstract: OBJECTIVE
  To investigate the transmission of microdeletions in the deleted in azoospermia (DAZ) genes to a male offspring via intracytoplasmic sperm injection (ICSI).
  
  
  METHODS
  Case report.
  
  
  METHODS
  Reproductive unit of a university teaching hospital.
  
  
  METHODS
  A 29-year-old, severely oligozoospermic male with microdeletions of the DAZ genes in Yq interval 6 and his son, who was conceived via ICSI.
  
  
  METHODS
  DNA screening for the microdeletions in Yq interval 6 with 24 sequence tagged sites with the use of polymerase chain reaction amplification for the patient, the patient's father, and the patient's son. Paternity identification was performed using nine hypervariable short tandem repeats.
  
  
  METHODS
  Deletion mapping of Yq interval 6 from sequence tagged sites and electropherogram of short tandem repeats for DNA fingerprinting.
  
  
  RESULTS
  The son had the same microdeletions of the DAZ genes as the patient, and the patient's father had normal DAZ genes. The paternity of the patient, the patient's father, and the patient's son was verified.
  
  
  CONCLUSIONS
  De novo DAZ microdeletions in an infertile male can be transmitted to a male offspring via ICSI. DNA screening tests for DAZ genes before ICSI may help in the genetic counseling of patients with idiopathic azoospermia or severe oligozoospermia.
authors.affiliation: Department of Obstetrics and Gynecology, College of Medicine and the Hospital, National Taiwan University, Taipei.
authors.forename: M C
authors.initials: MC
authors.lastname: Jiang
authors.forename: Y R
authors.initials: YR
authors.lastname: Lien
authors.forename: S U
authors.initials: SU
authors.lastname: Chen
authors.forename: T M
authors.initials: TM
authors.lastname: Ko
authors.forename: H N
authors.initials: HN
authors.lastname: Ho
authors.forename: Y S
authors.initials: YS
authors.lastname: Yang
mesh_terms: D000328:Adult; D004247:DNA / Q000032:analysis; D000075364:Deleted in Azoospermia 1 Protein; D005307:Fertilization in Vitro / Q000379:methods*; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008845:Microinjections; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics*; D014998:Y Chromosome
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins; D004247:DNA