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本文报告一例15岁月经未潮女孩,缺乏第二性征,智力发育不全,并具内眦赘皮,舌、耳大,甲状腺肿大等症状。核型分析为45,X/46,XXr嵌合体,其中32％核型有一环状染色体,可鉴定为46,X_r(X)(p~(11)q~(28)),部分细胞出现双环染色体、染色体碎片(X_F)。环状染色体具各种图象,X染色质阳性率8％,TFRC为185,比正常人多41;十指端皮纹图型左、右手Ⅰ—Ⅴ指分别为:L~u,L~r(左)/W(右),L~u,W,W。对环状染色体和嵌合体成因作了讨论。
This article reports a case of 15-year-old girl who has not passed the tide, the lack of secondary sexual characteristics, mental retardation, and with epicanthus, tongue, ear, goiter and other symptoms. The karyotype analysis was a 45, X / 46, XXr chimera in which 32% of karyotypes had a circular chromosome that was identified as 46, X_r (X) (p ~ (11) q ~ Chromosomes, chromosome fragments (X_F). Cyclic chromosome with a variety of images, X-chromosome positive rate of 8%, TFRC 185, 41 more than normal people; ten-finger dermatoglyphic pattern left and right hand Ⅰ-Ⅴ fingers were: L ~ u, L ~ r (Left) / W (right), L ~ u, W, W. The causes of circular chromosomes and chimeras are discussed.