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本文报道一位22岁女性,体矮、原发闭经、智力低下、第二性征缺乏,其核型为48,X,ter rea(X;X)(qter→cen→p22.3::p22.3→qter),这条重排染色体有正常X染色体二倍大,在着丝粒和假着丝粒区可见结构异染色质,但只有一个初级缢痕,细胞分裂稳定,全部部是迟复制。本文还对迟复制tX/X染包体(qter→cen→922.3::p22.3→qter)DNA复制类型,不同细胞和同一细胞中易传染色体的2个部分的DNA复制类型进行了分析。
This paper reports a 22-year-old female with low body length, primary amenorrhea, low mental status and lack of secondary sexual characteristics. The karyotype is 48, X, X re (X; X) (qter → cen → p22.3 :: p22 .3 → qter). This rearranged chromosome is twice as large as the normal X chromosome. It shows structural heterochromatin in the centromere and pseudomelic region, but only one primary streak, cell division is stable and all are late copy. The DNA replication types of late replication tX / X (qter → cen → 922.3 :: p22.3 → qter) DNA replication types, two different parts of the easily transfected chromosomes in different cells and the same cell were also analyzed.