King C R, Magenis E, Bennett S
Obstet Gynecol. 1978 Nov;52(5):617-24.
A 21-year-old white female with short stature, cubitus valgus, multiple cutaneous nevi, and no other major features of the Turner syndrome is described. She had normal secondary sex development and menses. She recently completed a normal pregnancy with delivery of a normal male infant. Postpartum endocrine studies were normal. All cells examined from blood, skin, uterus, and both ovaries had a 45,X karyotype. She is the sixth reported monosomy X patient to achieve pregnancy. A literature review indicates increased fetal wastage (22 of 46 pregnancies) and increased chromosomal errors in the offspring (8 of 26 liveborn infants) of patients with a 45,X cell line. Three cases of trisomy 21 occurred in these infants. Amniocentesis and prenatal diagnostic studies are indicated for women with a 45,X chromosome constitution. The pathogenesis of the Turner syndrome is considered in relation to these findings.
本文描述了一名21岁的白人女性，身材矮小，肘外翻，有多处皮肤痣，无特纳综合征的其他主要特征。她的第二性征发育和月经正常。她最近顺利完成了一次妊娠，分娩出一名正常男婴。产后内分泌检查正常。对血液、皮肤、子宫和双侧卵巢进行检查的所有细胞均具有45,X核型。她是第六例报道的单体X患者成功妊娠的病例。文献综述表明，具有45,X细胞系的患者胎儿丢失率增加（46次妊娠中有22次），后代染色体错误增加（26名活产婴儿中有8名）。这些婴儿中有3例发生了21三体综合征。对于具有45,X染色体组成的女性，建议进行羊膜穿刺术和产前诊断研究。结合这些发现对特纳综合征的发病机制进行了探讨。
