Farah S B, Ramos C F, de Mello M P, Sartorato E L, Horelli-Kuitunen N, Lopes V L, Cavalcanti D P, Hackel C
Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Brazil.
Am J Med Genet. 1994 Feb 15;49(4):388-92. doi: 10.1002/ajmg.1320490407.
We report on 2 cases of Y; autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y-chromosome is translocated to the chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenetic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time.
我们报告了2例Y染色体与常染色体易位的病例。其中1例为男性，外生殖器正常，核型为45,X，细胞遗传学分析未发现嵌合体或明显易位证据。原位杂交显示Y染色体的常染色质部分易位至15号染色体。另一例为临床诊断为18三体的男性患者，核型众数为46，有一个小的中着丝粒标记，外观类似i(18p)，并有Y;18易位的细胞遗传学和分子证据。本文首次报道了与18三体临床体征相关的Y;18易位的发生情况。
