Turner's syndrome (TS) is depicted as a total or partial absence of X chromosome, and occurs in approximately 1/2200 of live born females. Generally, mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure, and a history of malformed babies. The purpose of this case report is to show that even a selection of normal karyotype embryos can result in abnormalities for those with mosaic TS. A 32-year old patient who underwent IVF after ICSI-PGD, and was diagnosed with 45X/46XX karyotype. At the 12-week scan, one of the fetuses had an upper limb hemimelia in one arm, and feticide was applied to that fetus. The patient delivered a healthy, 2980 g female baby at the thirty-eighth week. In mosaic TS pregnancies (even those obtained by ICSI-PGD), fetal anomaly risk is high. Therefore, careful prenatal scanning is needed for these pregnancies.

特纳氏综合症（TS）被描述为X染色体的全部或部分缺失，并在大约1/2200的活产女性中发生。通常，由于复发性流产，反复体外受精（IVF）失败以及畸形婴儿病史，在进行了染色体核型分析后，才诊断出镶嵌患者。本病例报告的目的是表明，即使选择正常的核型胚胎也可能导致镶嵌TS的异常。一名32岁的患者在ICSI-PGD后接受了IVF，并被诊断为45X / 46XX核型。在为期12周的扫描中，其中一位胎儿的一只手臂上有半身血尿，并且对该胎儿使用了杀真菌剂。在第38周，患者分娩了一个健康的2980 g女婴。在镶嵌TS妊娠中（甚至是通过ICSI-PGD获得的那些），胎儿异常风险很高。