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排序方式: 共有103条查询结果,搜索用时 46 毫秒
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Professor B. Dallapiccola G. Ferranti D. Altissimi F. Colloridi R. Paesano 《黑龙江环境通报》1989,9(8):555-558
A (14;21) homozygous Robertsonian translocation was detected by first-trimester prenatal diagnosis. The related parents were heterozygous for the same translocation. At birth the baby was physically normal and had a normal psychomotor development. Together with a few previous observations in living homozygotes for (13;14) translocations, this case corroborates the idea that these subjects with 44 chromosomes are healthy without dysmorphic features. 相似文献
33.
Prenatal diagnosis of charcot-marie-tooth disease type 1a (CMT1A) using molecular genetic techniques
R. Navon V. Timmerman A. Löfgren P. Liang E. Nelis M. Zeitune Professor Dr. C. Van Broeckhoven Ph.D. 《黑龙江环境通报》1995,15(7):633-640
Charcot-Marie-Tooth disease type 1A (CMT1A) is a frequent hereditary motor and sensory neuropathy of the peripheral nerves. In most cases, the disease is associated with a 1.5 Mb tandem duplication at 17p11.2. A 42-year-old pregnant woman requested prenatal diagnosis because of her age and since both her husband and two children were severely affected with CMT1. The CMT1A duplication was demonstrated in the father's, the two children's, and the fetus's DNA using different molecular genetic methods. Although cytogenetical analysis showed a normal female karyotype in the fetus, the parents decided to terminate the pregnancy because of the genetic risk associated with the CMT1A duplication. 相似文献
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Professor L. Bovicelli L. Michelacci N. Rizzo L. F. Orsini G. Pilu V. Montacuti M. Bacchetta M. C. Pittalis 《黑龙江环境通报》1983,3(2):101-106
Among 1041 pregnancies 13 twin gestations were detected by routine ultrasonography prior to genetic amniocentesis at the Department of Prenatal Physiopathology of the University of Bologna. Clear amniotic fluid from both sacs was obtained in 12 of 13 sets of twins. All 12 sets were cytogenetically normal with normal levels of α-fetoprotein. Only one patient spontaneously aborted liveborn immature twins 30 days after the procedure. The technique used to obtain samples of fluid is described in detail and the need for additional counselling prior to amniocentesis in twins is stressed. 相似文献
36.
James Otto Deputy Director Koh Naito Mining Expert George Pring Professor 《Natural resources forum》1999,23(4):323-334
This paper offers a new perspective on the environmental laws in Asian nations affecting the exploration, mining, and reclamation activities of the mineral resource industry: the perspective of the senior government officials in those countries, whose job is to enforce these new environmental laws. The article presents the results of a 1998 survey of national environmental officials in Asia conducted by the Colorado School of Mines and the Metal Mining Agency of Japan. Officials in 10 diverse countries—Cambodia, China, Indonesia, Lao PDR, Malaysia, Myanmar, Mongolia, Philippines, Thailand and Vietnam—responded to a detailed questionnaire covering applicable laws, agencies, protected areas, covered mineral activities, financial assurance, environmental impact assessment, public involvement, environmental standards, permit and reclamation requirements.
The survey confirms that Asian nations are part of the global trend towards national government regulatory structures that balance mineral development objectives with environmental considerations. The survey also shows developing regulatory systems (some embryonic, some more mature) utilizing a combination of mining and environmental acts, and often an 'insider' perspective of the national officials administering the laws. While that perspective is not without its biases (not least the rigor of enforcement), it may nevertheless be of use in company planning. The emerging regulatory picture contradicts the conventional notion that it is the 'lower' level of regulation in Asia that is attracting foreign direct investment in mining. 相似文献
The survey confirms that Asian nations are part of the global trend towards national government regulatory structures that balance mineral development objectives with environmental considerations. The survey also shows developing regulatory systems (some embryonic, some more mature) utilizing a combination of mining and environmental acts, and often an 'insider' perspective of the national officials administering the laws. While that perspective is not without its biases (not least the rigor of enforcement), it may nevertheless be of use in company planning. The emerging regulatory picture contradicts the conventional notion that it is the 'lower' level of regulation in Asia that is attracting foreign direct investment in mining. 相似文献
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Professor R. J. Benzie P. Ray D. Thompson A. G. W. Hunter B. Iwey L. Salvador 《黑龙江环境通报》1994,14(4):235-238
A fetal thigh muscle biopsy was performed at 18 weeks and 6 days' gestation using an automatic 18-gauge biopsy needle. A positive immunoreaction with antisera to the amino- and carboxy-terminals of dystrophin excluded Duchenne muscular dystrophy from this at-risk male. 相似文献
40.
Professor Pierpaolo Mastroiacovo Alberto Eugenio Tozzi Silvano Agosti Giancarlo Bocchino Luciano Bovicelli Leda Dalprà Laura Doria Laba Carbone Mario Lituania Angelica Luttichau Franco Mantegazza Gianfranco Nocera Antonio Pachi Ubaldo Passamonti Giuseppe Piombo Anna Franca Vasta 《黑龙江环境通报》1993,13(11):1051-1056
A retrospective cohort study was performed in five Italian obstetrical centres from 1984 to 1991 in order to verify the association between chorionic villus sampling (CVS) and transverse limb reduction defects (TLRDs). TLRD rates by period of gestation at CVS were calculated, and the study's results were compared with data from the general population. Of the 3430 pregnancies for which CVS was performed, 2759 had a known outcome. The overall rate for TLRDs was 1 in 1143 CVS pregnancies, four times higher than that of the general population in Italy (1 in 4458). The rate of TLRDs was 2·9/1000 for CVS performed at 9 weeks' gestation and 1·0/1000 for CVS at 10 weeks' gestation. A scalp defect was detected in a pregnancy in which CVS was performed at 10 weeks. A high proportion of pregnancies lost to follow-up and the poor quality of the data may have affected the results. Nevertheless, our results suggest an association between CVS carried out at less than 10 weeks' gestation and TLRDs which is consistent with the findings of other studies. CVS should not be prepared at less than 10 weeks' gestation until additional evidence is obtained. 相似文献