title: Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature.
abstract: Chromosomal defects are relatively frequent in infertile men however, translocations between the Y chromosome and autosomes are rare and less than 40 cases of Y-autosome translocation have been reported. In particular, only three individuals has been described with a Y;21 translocation, up to now. We report on an additional case of an infertile man in whom a Y;21 translocation was associated with the deletion of a large part of the Y chromosome long arm. Applying various techniques, including conventional cytogenetic procedures, fluorescence in situ hybridisation (FISH) analysis and array comparative genomic hybridization (array-CGH) studies, we identified a derivative chromosome originating from a fragment of the short arm of the chromosome Y translocated on the short arm of the 21 chromosome. The Y chromosome structural rearrangement resulted in the intactness of the entire short arm, including the sex-determining region Y (SRY) and the short stature homeobox (SHOX) loci, although translocated on the 21 chromosome, and the loss of a large part of the long arm of the Y chromosome, including azoospermia factor-a (AZFa), AZFb, AZFc and Yq heterochromatin regions. This is the first case in which a (Yp;21p) translocation has been ascertained using an array-CGH approach, thus reporting details of such a rearrangement at higher resolution.
authors.affiliation: Molecular Medicine Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics, Misericordia Hospital, Grosseto, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Orrico
authors.affiliation: Diagnostic Genetic Unit, Department of Laboratory, Careggi University Hospital, Firenze, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Marseglia
authors.affiliation: Diagnostic Genetic Unit, Department of Laboratory, Careggi University Hospital, Firenze, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Pescucci
authors.affiliation: Medical Genetics, Misericordia Hospital, Grosseto, Italy.
authors.forename: Ambra
authors.initials: A
authors.lastname: Cortesi
authors.affiliation: Department of Molecular and Developmental Medicine, University of Siena, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Piomboni
authors.affiliation: Genitourinary Unit, University of Siena, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Giansanti
authors.affiliation: Diagnostic Genetic Unit, Department of Laboratory, Careggi University Hospital, Firenze, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Gerundino
authors.affiliation: Genitourinary Unit, University of Siena, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Ponchietti
keywords: Azoospermia; Hypogonadism; Translocation; Y Chromosome