Bigozzi U, Simoni G, Montali E, Dalpra L, Rossella F, Piazzini M, Borghi A
J Med Genet. 1980 Feb;17(1):62-6. doi: 10.1136/jmg.17.1.62.
An 18-year-old boy with a male phenotype was examined because of testicular hypoplasia. Chromosome analysis using Q- and R-banding techniques and BUdR treatment showed a 47,XXX karotype, in both lymphocytes and fibroblasts. Cytogenetic problems raised by this case are discussed in relation to data from previous published reports.
一名具有男性表型的18岁男孩因睾丸发育不全接受检查。使用Q带和R带技术以及溴脱氧尿苷(BUdR)处理进行染色体分析,结果显示淋巴细胞和成纤维细胞的核型均为47,XXX。结合先前发表报告中的数据,讨论了该病例引发的细胞遗传学问题。