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本文报导1例Turner综合征,染色体核型为45,X/46XX镶嵌型。患者系单卵双胎之一,挛生姐姐3岁时夭亡。患者发育尚正常,但与其母亲相似自幼有偏头痛。患者的月经史:16/30。19岁时妊娠,因产科检查时已妊娠25周,故未能进行羊水细胞核型分析。最后足月顺产一女婴,体重2.98kg,身长50cm,染色体核型为46XX,未见畸形,发育正常。作者在讨论中指出:早在1966年Singh和Cari就发现早期45,X的胚胎,其性腺是正常的,但到胎儿期、青春期或偶有在以后的阶段中,生殖细胞退化,性腺为条索状。也有学者发现,此综合征患者婴儿期的卵巢中有成簇生殖细胞或始基卵泡,在46,XX;47,XXX或45,X的患者中,生殖细胞全部消亡或卵巢成为条索状约需20～30年。一些学者指
This article reports a case of Turner syndrome, chromosome karyotype 45, X / 46XX mosaic. One of the patients with monozygotic twins, twin sister died when she was 3 years old. Patients are still normal development, but similar to their mothers have migraine since childhood. Patients with menstrual history: 16 / 30.19 years of gestation, gestation because of obstetric examination has been 25 weeks of pregnancy, it failed to carry out amniotic fluid karyotype analysis. The last full term of a baby girl, weight 2.98kg, length 50cm, chromosome karyotype 46XX, no abnormalities, normal development. In the discussion, the authors state that as early as 1966, Singh and Cari found early 45, X embryos whose gonads are normal, but that germ cells degenerate to fetal, adolescent, or occasionally later stages, gonads Cable shape. Some scholars have also found that patients with this syndrome in infancy ovary clustered germ cells or primordial follicles in 46, XX; 47, XXX or 45, X, all of the germ cells disappear or become ovarian cord-like Need 20 to 30 years. Some scholars point out