Lambert I, Kemp J, Jackson J, Joyce H, Mann S, Kan A, Smith A
Department of Genetics, Children's Hospital, Camperdown, NSW, Australia.
Prenat Diagn. 1994 Jun;14(6):507-10. doi: 10.1002/pd.1970140617.
Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype--46,XX/46,XX,-14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.
孕17周时进行羊膜穿刺术,结果显示为嵌合核型——46,XX/46,XX,-14,+dic(14)(p11)。超声检查未发现异常。生长和胎盘形成均正常。终止妊娠后对胎儿进行检查,仅发现小颌畸形和肺叶过度分叶。取了包括胎儿皮肤、肾脏、卵巢和胎盘在内的多个组织进行细胞遗传学检查。这些研究证实了诊断。各组织间的嵌合水平有所不同,14三体细胞系在羊水中最高。