46,X,psu dic(X)(q24)原发性闭经患者的染色体分析

AN ANALYSIS OF CHROMOSOME WITH KARYOTYPE 46, X PSU DIC (X) (q24) IN A PATIENT WITH PRIMARY AMENORRHEA

本文运用细胞遗传学方法,对一例原发性闭经患者的世界首报核型46,X,psu dic(X)(q24)作了研究,并就其异常核型与表型关系,dic(X)的形成机理等进行了讨论。

The cytogenetic study of some chromosomes from a patient with primary amenorrhea demonstrated that this karyotype was 46, X, psu dic(X)(q24). This Karyotype was authenticated by the National Training Center of Cytogenetics of Hunan Medical University as the first one reported in the world. The relation between the abnormal karyotype and phenotype and the mechanism of forming dic(X) were also discassed.