Kjessler B, Farhan M
Int J Fertil. 1978;23(4):305-8.
Secondary amenorrhea was observed in a 27-year-old woman with a structurally abnormal isochromosome--X, i(Xq), in all cells analyzed. The apparent phenotypical variability that may be observed in subjects with functional monosomy for the short arm of X, must be taken into consideration when patients with amenorrhea are clinically investigated. A correct, and early diagnosis of the etiology of the dysgenetic state of the gonads may only be obtained by accurate cytogenetic investigations, i.e., by utilizing various modern banding techniques.
在一名27岁女性中观察到继发性闭经，其所有分析细胞中均存在结构异常的等臂染色体-X，即i(Xq)。在对闭经患者进行临床研究时，必须考虑到X染色体短臂功能性单体患者可能出现的明显表型变异性。只有通过精确的细胞遗传学研究，即利用各种现代显带技术，才能正确且早期诊断性腺发育不全状态的病因。
