De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>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 17^thweek 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 12^thweek of gestation (WG). Chromosome and DNA studies of the fetus were realized on cultured amniocytes</p> <p>Results</p> <p>Conventional, molecular cytogenetic and microarray CGH experiments allowed us to conclude that the fetus had a <it>de novo </it>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.</p> <p>Conclusion</p> <p>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.</p