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Isabella Delaroche Margherita Sabani Giuseppe Calabrese Rita Mingarelli Giandomenico Palka Professor Bruno Dallapiccola 《黑龙江环境通报》1995,15(3):278-281
An apparently balanced t(2q;21q) translocation was discovered in fetal blood and amniocytes of a 22-week fetus, monitored because of ultrasonographic evidence of a heart disease. FISH (fluorescence in situ hybridization) analysis disclosed a complex translocation between chromosomes 2q, 18q, and 21q, which was inherited from the healthy mother. This observation corroborates the usefulness of molecular cytogenetic techniques in raising the quality of prenatal diagnosis and detecting subtle rearrangements not resolved by standard cytogenetics. 相似文献
43.
Epidemiological survey of 573 families, clinical examination of 2593 persons, and X-ray examination of 1136 persons (in 16 typical endemic villages) were conducted, based on the classification of endemiology for KBD disease areas, i.e, mountain type, loess plateau type, plateau type, and flatlands type. It was revealed that the KBD disease areas exhibited the regular pattern of corming-into-being, development and passing-away and the characteristics of growth and decline. Further, it was found clinically that the disease areas may be divided into 4 types, i.e., recent onset, developing, stable, and historical. This division is simple and easy, practical, scientific, and reliable and can be applied by medical personnel at different levels. 相似文献
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采用温锻制坯与冷摆辗相结合的复合成形工艺生产VE泵端面凸轮精密成形件,不仅材料利用率可达到95%左右;而且成形件的尺寸精度高,表面光洁度高,能有效地减少后续仿形磨削加工的余量,从而降低了生产成本,提高了生产效率。采用该工艺可以进行大批量生产,能满足我国轻型汽车VE泵的生产需要。 相似文献
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L. Bovicelli M.D. F. M. Picchio G. Pilu G. Baccarani L. F. Orsini N. Rizzo G. Alampi P. M. Benenati J. C. Hobbins 《黑龙江环境通报》1984,4(1):67-72
In a case of fetal heart failure caused by endocardial fibroelastosis, prenatal echocardiography clearly demonstrated; a thickened endocardium. We therefore suggest that an abnormal endocardium may be detected in utero by ultrasound, thus representing an important clue in the differential diagnosis of fetal nonimmune hydrops and in the evaluation of pregnancies at risk for endocardial fibroelastosis. 相似文献
48.
本文论述了氢、氧同位素作为高岭土矿成因类型地球化学指标的意义.根据氢、氧同位素数据,我国浙闽沿海地区高岭土矿床主要可分为热液蚀变型和风化作用型两大类.其成矿溶液以大气降水为主. 相似文献
49.
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
50.
Conxi Lazaro Antonia Gaona Anna Ravella Victor Volpini Dr. Xavier Estivill 《黑龙江环境通报》1995,15(2):129-134
Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status. 相似文献