title: FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male.
abstract: This study presents a 28-year-old infertile male who was referred to the cytogenetic laboratory for chromosomal analysis after 4 years of regular unprotected intercourse in whom non-obstructive azoospermia was revealed. Standard cytogenetic G-banding was performed on metaphase spreads and a de-novo karyotype 46,X,der(Y)(q11.22;p11.3) was identified. This analysis was followed by flourescence in-situ hybridization(FISH) and array comparative genomic hybridization (aCGH). Finally, the patient's karyotype was identified as 46,X,der(Y)(qter→q11.221::p11.31→qter).ish der(Y) (qter+,pter-,SHOX+,SRY+,Ycen+,DYZ3+;DYZ1+,qter+).arrYq11.221q12(14,448,863-59,288,511) x2, Yp11.32p11.31(104,062-266,388) x0. It is proposed that de-novo derivative monocentric Y chromosome with duplicated region Y qter→q11.221::p11.31→qter with partial deletion of Yp PAR1 region most probably can perturb the conjugation of sex chromosomes during first meiotic division of spermatogenic arrested differentiation (development).
authors.affiliation: Department of Reproductive Biology and Stem Cells, Institute of Human Genetics Polish Academy of Sciences, Poznan, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Wiland
authors.affiliation: Department of OBGYN and Reproductive Science, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
authors.forename: Alexander N
authors.initials: AN
authors.lastname: Yatsenko
authors.affiliation: Department of OBGYN and Reproductive Science, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
authors.forename: Archana
authors.initials: A
authors.lastname: Kishore
authors.affiliation: 'nOvum' Fertility Clinic, Warszawa, Poland.
authors.forename: Halina
authors.initials: H
authors.lastname: Stanczak
authors.affiliation: Department of Reproductive Biology and Stem Cells, Institute of Human Genetics Polish Academy of Sciences, Poznan, Poland.
authors.forename: Agata
authors.initials: A
authors.lastname: Zdarta
authors.affiliation: Pathology Department, Maria Sklodowska Curie, Memorial Cancer Hospital, Warsaw, Poland.
authors.forename: Marcin
authors.initials: M
authors.lastname: Ligaj
authors.affiliation: Department of Reproductive Biology and Stem Cells, Institute of Human Genetics Polish Academy of Sciences, Poznan, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Olszewska
authors.affiliation: 'nOvum' Fertility Clinic, Warszawa, Poland; Urooncology Department, Maria Skłodowska Curie, Memorial Cancer Hospital, Warsaw, Poland.
authors.forename: Jan Karol
authors.initials: JK
authors.lastname: Wolski
authors.affiliation: Department of Reproductive Biology and Stem Cells, Institute of Human Genetics Polish Academy of Sciences, Poznan, Poland. Electronic address: kurpimac@man.poznan.pl.
authors.forename: Maciej
authors.initials: M
authors.lastname: Kurpisz
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D041322:Chromosomes, Human, Y; D055028:Comparative Genomic Hybridization / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male
keywords: FISH; aCGH; azoospermia; der(Y); intrachromosomal duplication and translocation; pseudoisomonocentric