Mattei J F, Taramasco H, Mattei M G, Lucas C, Aubert L, Giraud F
Hum Genet. 1977 Aug 31;38(1):39-48. doi: 10.1007/BF00295806.
A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes, with 5% presenting a 46,X,dic(X) formula. Cytogenetic and clinical problems raised by this observation are discussed in relation to data from the literature.
一名12岁女孩因生长发育迟缓及特纳综合征的一些非常细微的畸形体征接受检查；其生殖器呈幼稚型，但双侧卵巢均有功能卵泡。R带和C带技术以及溴脱氧尿苷处理显示，95%的淋巴细胞核型为45,X，5%为46,X,dic(X)。结合文献数据对该观察结果引发的细胞遗传学和临床问题进行了讨论。
