Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/195194
Type: Artigo de periódico
Title: Identification Of A Neocentromere In A Rearranged Y Chromosome With No Detectable Dyz3 Centromeric Sequence.
Author: Assumpção, Juliana Godoy
Berkofsky-Fessler, Windy
Viguetti Campos, Nilma
Trevas Maciel-Guerra, Andréa
Li, Shulan
Melaragno, Maria Isabel
Palandi de Mello, Maricilda
Warburton, Peter E
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.
Subject: Adolescent
Amenorrhea
Centromere
Chromosome Banding
Chromosomes, Human, Y
Female
Humans
Hypogonadism
In Situ Hybridization, Fluorescence
Sex Chromosome Aberrations
Rights: fechado
Identifier DOI: 10.1002/ajmg.10701
Address: http://www.ncbi.nlm.nih.gov/pubmed/12439894
Date Issue: 2002
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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