King C R, Schimke R N
J Med Genet. 1982 Dec;19(6):467-9. doi: 10.1136/jmg.19.6.467.
A phenotypically normal woman with a 47,XX,i(Xq) karyotype is reported. She has had two successful pregnancies monitored by prenatal diagnosis with the delivery of normal offspring. The presence of a structurally abnormal third X chromosome has not demonstrably affected this patient or her reproduction. The importance of the human X and Y chromosomes in sexual differentiation is readily apparent. Patients with anomalies of the X chromosome most frequently have clinical features of Turner's syndrome. Much less clearly defined are patients who possess additional X chromosome material. For example, triple X females are not easily distinguishable from 46,XX females. Only a few cases have been reported of patients who have a 47,XXX karyotype with the third X chromosome being structurally abnormal. This report describes a patient with a 47,XX,i(Xq) (qter leads to cen leads to qter) karyotype.
报道了一名核型为47,XX,i(Xq)的表型正常女性。她曾有过两次成功妊娠，均通过产前诊断进行监测，分娩出正常后代。结构异常的第三条X染色体的存在并未对该患者或其生殖产生明显影响。人类X和Y染色体在性别分化中的重要性显而易见。X染色体异常的患者最常具有特纳综合征的临床特征。拥有额外X染色体物质的患者则定义不太明确。例如，XXX女性不易与46,XX女性区分开来。仅有少数病例报道了核型为47,XXX且第三条X染色体结构异常的患者。本报告描述了一名核型为47,XX,i(Xq)（qter导致cen导致qter）的患者。
