title: Characterization and meiotic segregation of a supernumerary marker chromosome in sperm of infertile males: case report and literature review.
abstract: This couple presented with a 4-year history of primary infertility. The male partner was found to have oligoasthenozoospermia. A supernumerary marker chromosome (SMC) was found. Fluorescent in situ hybridization (FISH) analyses showed that the SMC was a heterochromatic dicentric marker derived from chromosome 22. Further FISH procedures showed the rate of unbalanced spermatozoa containing one chromosome 22 and the SMC to be 15.6%. Due to the low risk of fetal chromosomal imbalance linked to the paternal SMC and the risk of miscarriage linked to the amniocentesis, the couple declined prenatal diagnosis. A healthy newborn baby was obtained after ICSI.
authors.affiliation: Laboratoire d'Histologie, Embryologie et Cytogénétique, INSERM U1078, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.
authors.forename: Aurore
authors.initials: A
authors.lastname: Perrin
authors.forename: Ming Huong
authors.initials: MH
authors.lastname: Nguyen
authors.forename: Bruno
authors.initials: B
authors.lastname: Delobel
authors.forename: Nadia
authors.initials: N
authors.lastname: Guéganic
authors.forename: Audrey
authors.initials: A
authors.lastname: Basinko
authors.forename: Marie-Josée
authors.initials: MJ
authors.lastname: Le Bris
authors.forename: Nathalie
authors.initials: N
authors.lastname: Douet-Guilbert
authors.forename: Marc
authors.initials: M
authors.lastname: De Braekeleer
authors.forename: Frédéric
authors.initials: F
authors.lastname: Morel
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D020090:Chromosome Segregation; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008540:Meiosis / Q000235:genetics*; D010375:Pedigree; D013094:Spermatozoa / Q000378:metabolism*