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751.
Prenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X-linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Opitz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester. 相似文献
752.
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. 相似文献
753.
低pH对草鱼血液酸碱平衡的影响 总被引:4,自引:1,他引:4
研究了低pH(6.0—4.0)对草鱼血液酸碱平衡、p_(o2)及p_(co2)的影响,结果表明,低pH引起草鱼严重的酸血症.亚致死pH(6.0—5.0)时,血液酸碱平衡的影响主要表现为碱贮备[HCO_3]的丧失,血液pH的明显下降经机体缓冲调节可趋于稳定.致死低pH(4.0)时,血液pN和[HCO_3]下降均非常显著,并在96h内随酸化时间延长而日趋严重.仅在pH≤4.0的酸水中草鱼存在低氧症影响问题.草鱼是一种酸敏感性鱼类,为确保成鱼在天然水体的生存和繁育,水质pH至少应维持在6.0以上. 相似文献
754.
An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non-fluorescent marker. C-banding identified the marker as an isodicentric in 12 cells. In two cells, the non-fluorescent marker appeared to be monocentric and looked like a non-fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y-specific centromeric probe confirmed the Y-chromosome origin of the markers and allowed for more accurate prenatal diagnostic information. 相似文献
755.
Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization. 相似文献
756.
757.
Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long-term culture. 相似文献
758.
于深乔 《石油化工环境保护》1997,(1):42-44
辽阳石油化纤公司在消化、吸收引进技术的同时.结合生产实际,对环境进行综合治理,至点抓了“三废”资源化,能源化和无害化工作,找出了适合本企业综合利用的有效途径,形成了从科研开发到试制生产的综合利用体系,取得了显著的经济效益、环使效益和社会效益。 相似文献
759.
760.