Nielsen J, Sillesen I, Hansen K B
Br J Obstet Gynaecol. 1979 Nov;86(11):833-5. doi: 10.1111/j.1471-0528.1979.tb10706.x.
A successful pregnancy in a woman with Turner's syndrome with a 45,X/46,XX karyotype is described. The literature contains reports of a total of nine pregnancies in seven women with a 45,X karyotype and 56 pregnancies in 23 women with mosaicism and a 45,X cell line, as well as a 46,XX and/or 47,XXX cell line. Fifteen of the latter 56 pregnancies ended in spontaneous abortion (27 per cent), and four ended in the delivery of a stillborn child; 12 of the 37 liveborn infants (32 per cent) had a physical or mental abnormality, and 8 (22 per cent) had a chromosome abnormality. Three had Down's syndrome, and five had a 45,X cell line. Due to the relatively high (8 per cent) incidence of Down's syndrome among liveborn infants of women with Turner's syndrome, amniocentesis for fetal karyotyping should be advised.
本文描述了一名核型为45,X/46,XX的特纳综合征女性成功妊娠的案例。文献报道中，共有7名核型为45,X的女性经历了9次妊娠，23名具有嵌合体且含有45,X细胞系以及46,XX和/或47,XXX细胞系的女性经历了56次妊娠。后56次妊娠中有15次以自然流产告终（27%），4次分娩出死胎；37名活产婴儿中有12名（32%）存在身体或精神异常，8名（22%）存在染色体异常。其中3名患有唐氏综合征，5名含有45,X细胞系。鉴于特纳综合征女性的活产婴儿中唐氏综合征的发病率相对较高（8%），建议进行羊水穿刺以进行胎儿核型分析。
