Smith A, Donnelly P E, Elliott G, den Dulk G
Ann Genet. 1979;22(3):143-7.
A 16 year-old girl with short stature and gonadal dysgenesis was found to have a chromosomal complement consisting of 46,X,dic(X) (qter yields p22::p22 yields qter). When comparing her clinical features with 7 other cases who appeared to have precisely the same abnormal dicentric X, it was found that even though the percent of 45,X cells present varied considerably from patient to patient, these patients were remarkably similar and the stigmata, of Turner's syndrome were minimal in this group as a whole.
一名身材矮小且患有性腺发育不全的16岁女孩，其染色体组成为46,X,dic(X) (qter断裂产生p22::p22断裂产生qter)。将她的临床特征与其他7例似乎具有完全相同异常双着丝粒X染色体的病例进行比较时发现，尽管每个患者体内45,X细胞的比例差异很大，但这些患者非常相似，并且在整个群体中特纳综合征的体征非常轻微。
