title: Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence.
abstract: An 18-year-old woman was evaluated because of primary amenorrhea and hypogonadism. Chromosome analysis from peripheral blood lymphocytes revealed a nonmosaic 46,X,+mar constitution. The marker was shown to be a rearranged Y chromosome consisting of an inverted duplication of the long arm: rea(Y)(qter-q11::q11-qter). Deletion mapping analysis with Y-specific STS showed that the marker lacked Yp and Y-centromeric (DYZ3) sequences, but it was positive for Yq sequences tested. Fluorescence in situ hybridization analysis with Y and X chromosome centromeric and pancentromeric probes showed no hybridization signals. The marker chromosome is present in 100% of the cells; therefore, it is mitotically stable despite the absence of DYZ3 centromeric sequence. Hybridization with CENP-A and CENP-C specific antibodies localized a neocentromere close to the breakpoint.
authors.affiliation: Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil.
authors.forename: Juliana Godoy
authors.initials: JG
authors.lastname: Assumpção
authors.forename: Windy
authors.initials: W
authors.lastname: Berkofsky-Fessler
authors.forename: Nilma
authors.initials: N
authors.lastname: Viguetti Campos
authors.forename: Andréa
authors.initials: A
authors.lastname: Trevas Maciel-Guerra
authors.forename: Shulan
authors.initials: S
authors.lastname: Li
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Melaragno
authors.forename: Maricilda
authors.initials: M
authors.lastname: Palandi de Mello
authors.forename: Peter E
authors.initials: PE
authors.lastname: Warburton
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics; D002503:Centromere / Q000235:genetics*; D002871:Chromosome Banding; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D000091402:Prohibitins; D012729:Sex Chromosome Aberrations