title: De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH.
abstract: BACKGROUND
  In routine Assisted Reproductive Technology (ART) men with severe oligozoospermia or azoospermia should be informed about the risk of de novo congenital or chromosomal abnormalities in ICSI program. Also the benefits of preimplantation or prenatal genetic diagnosis practice need to be explained to the couple.
  
  
  METHODS
  From a routine ICSI attempt, using ejaculated sperm from male with severe oligozoospermia and having normal karyotype, a 30 years old pregnant woman was referred to prenatal diagnosis in the 17th week for bichorionic biamniotic twin gestation. Amniocentesis was performed because of the detection of an increased foetal nuchal translucency for one of the fetus by the sonographic examination during the 12th week of gestation (WG). Chromosome and DNA studies of the fetus were realized on cultured amniocytes
  
  
  RESULTS
  Conventional, molecular cytogenetic and microarray CGH experiments allowed us to conclude that the fetus had a de novo pericentromeric inversion associated with a duplication of the 9p22.1-p24 chromosomal region, 46,XY,invdup(9)(p22.1p24) [arrCGH 9p22.1p24 (RP11-130C19 --> RP11-87O1)x3]. As containing the critical 9p22 region, our case is in coincidence with the general phenotype features of the partial trisomy 9p syndrome with major growth retardation, microcephaly and microretrognathia.
  
  
  CONCLUSIONS
  This de novo complex chromosome rearrangement illustrates the possible risk of chromosome or gene defects in ICSI program and the contribution of array-CGH for mapping rapidly de novo chromosomal imbalance.
authors.affiliation: ATL R&D laboratory & Eylau Laboratory, UNILABS Group, Paris, France. atl78@aol.com.
authors.forename: Serdar
authors.initials: S
authors.lastname: Kasakyan
authors.forename: Laurence
authors.initials: L
authors.lastname: Lohmann
authors.forename: Azeddine
authors.initials: A
authors.lastname: Aboura
authors.forename: Mazin
authors.initials: M
authors.lastname: Quimsiyeh
authors.forename: Yves
authors.initials: Y
authors.lastname: Menezo
authors.forename: Gerard
authors.initials: G
authors.lastname: Tachdjian
authors.forename: Moncef
authors.initials: M
authors.lastname: Benkhalifa