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本文报道运用数种显带染色体新技术,对一例19岁原发闭经病人所作细胞遗传学的检查结果,并对有关问题进行了讨论。起初,在病人的淋巴细胞常规染色标本发现有一个很大的染色体,以后,经普通G带、C带、高分辨G带以及迟复制X染色体的进一步检查,确证患者的核型为45,X/46,X,idic(X)(pter→cen→q27::q27→cen→pter)嵌合体。高分辨G带分析进一步揭示,idic(X)的断裂和重接点在Xq27.1-2亚带。这是一种对称的双着丝粒X染色体,但其中的一个着丝粒通常并不呈现缢痕,而
This paper reports the results of a cytogenetic study of a 19-year-old primary amenorrhea patient using several new chromosomal staining techniques and discusses the related issues. Initially, a large chromosome was found in the normal lymphocytes of a patient. After further examination by ordinary G band, C band, high resolution G band, and late copy X chromosome, it was confirmed that the karyotype of the patient was 45, X / 46, X, idic (X) (pter → cen → q27 :: q27 → cen → pter) chimera. High-resolution G-band analysis further revealed that the breaks and refolding points of idic (X) are in the Xq27.1-2 subband. This is a symmetrical dicentric X chromosome, but one of the centromeres usually does not show a scar, and