Pescia G, Jotterand-Bellomo M, Nguyen T H, Scholberg-Hermann B
J Genet Hum. 1980 Dec;28(4):131-40.
A case of atypical Turner's syndrome with unusual karyotype is reported. The chromosome complements of the patient, studied with different banding techniques, is 45,XO/46,X,dic(X)(Xqter leads to p22::p22 leads to qter). In the literature 8 similar cases have been reported. Short stature and amenorrhea are the most constant findings. The mechanisms by which the observed chromosomal "rearrangement" can be produced are briefly discussed.
报告了一例具有异常核型的非典型特纳综合征病例。采用不同的显带技术对该患者的染色体组进行研究，结果为45,XO/46,X,dic(X)(Xqter导致p22::p22导致qter)。文献中已报道了8例类似病例。身材矮小和闭经是最常见的表现。简要讨论了产生所观察到的染色体“重排”的机制。
