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
Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil.
Am J Med Genet. 2002 Dec 1;113(3):263-7. doi: 10.1002/ajmg.10701.
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.
一名18岁女性因原发性闭经和性腺功能减退接受评估。外周血淋巴细胞的染色体分析显示为非嵌合型46,X,+mar核型。该标记物被证明是一条重排的Y染色体，由长臂的反向重复组成：rea(Y)(qter-q11::q11-qter)。用Y特异性STS进行的缺失定位分析表明，该标记物缺乏Yp和Y着丝粒（DYZ3）序列，但对所检测的Yq序列呈阳性。用Y和X染色体着丝粒及全着丝粒探针进行的荧光原位杂交分析未显示杂交信号。标记染色体存在于100%的细胞中；因此，尽管缺乏DYZ3着丝粒序列，但它在有丝分裂中是稳定的。与CENP-A和CENP-C特异性抗体杂交将一个新着丝粒定位在靠近断点处。
