Schmid W, D'Apuzzo V
Hum Genet. 1978 Mar 17;41(2):217-23. doi: 10.1007/BF00273104.
A 6-year-old girl of small stature and with some features of Turner's syndrome was found to have a karyotype with two-thirds of the cells possessing one, and one-third with two dicentric iso-long arm Y chromosomes. In metaphases with 46 chromosomes the majority of the abnormal Ys exhibited two primary constrictions. In cells with 47 chromosomes both isochromosomes prevalently had only one active centromere.
一名身材矮小且具有一些特纳综合征特征的6岁女孩,其核型显示三分之二的细胞含有一条双着丝粒等长臂Y染色体,三分之一的细胞含有两条。在具有46条染色体的中期相中,大多数异常Y染色体表现出两个初级缢痕。在具有47条染色体的细胞中,两条等臂染色体普遍仅具有一个活跃的着丝粒。