title: Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2).
abstract: Herein, we describe a case of an infertile man detected in postnatal diagnosis with FISH characterization and array-CGH used for genome-wide screening which allowed the identification of a complex rearrangement involving sex chromosomes, apparently without severe phenotypic consequences. The deletion detected in our patient has been compared with previously reported cases leading us to propose a hypothetical diagnostic algorithm that would be useful in similar clinical situations, with imperative multi disciplinary approach integrated with genetic counseling. Our patient, uniquely of reproductive age, is one of six reported cases of duplication of Xp22.3 (~8.4Mb) segment and contemporary deletion of Yq (~42.9Mb) with final karyotype as follows: 46,X,der(Y),t(X;Y)(Ypter→Yq11.221::Xp22.33→Xpter).ish der(Y) (Yptel+,Ycen+,RP11-529I21+,RP11-506M9-Yqtel−,Xptel+). arrXp22.33p22.31(702–8,395,963, 8,408,289x1), Yq11.221q12 (14,569,317x1, 14,587,321–57,440,839x0).
authors.affiliation: ORR Foggia, University Hospital, Department of Clinical Pathology II Laboratory, Section of Cytogenetic and Molecular Biology, Foggia, Italy. nenadbukvic@virgilio.it
authors.forename: Nenad
authors.initials: N
authors.lastname: Bukvic
authors.forename: Carla
authors.initials: C
authors.lastname: Cesarano
authors.forename: Caterina
authors.initials: C
authors.lastname: Ceccarini
authors.forename: Marianna
authors.initials: M
authors.lastname: Bruno
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: Lipsi
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Gallicchio
authors.forename: Maria Assunta
authors.initials: MA
authors.lastname: Carboni
authors.forename: Lucia
authors.initials: L
authors.lastname: Valente
authors.forename: Giulia
authors.initials: G
authors.lastname: Cotoia
authors.forename: Raffaele
authors.initials: R
authors.lastname: Antonetti
mesh_terms: D000328:Adult; D001483:Base Sequence; D058674:Chromosome Duplication; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D017384:Sequence Deletion; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic / Q000235:genetics