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111.
Three cases of unusual chromosomal mosaicism are reported for which the cytogenetic data show inconsistent findings between CVS and AC or fetal tissue, and which cannot be explained simply by non-disjunction. For case 1, in CVS the karyotype was 46,XY, whereas lymphocytes and fibroblasts revealed 69,XXY. DNA fingerprinting indicated one paternal and two maternal chromosome sets, the latter most probably due to omission of maternal meiosis II. For case 2, in CVS mos 46,XX/47,XX,+mar de novo was observed. Amniotic fluid cells had the karyotype 46,XX. The origin of the marker chromosome might be explained by at least two events of unknown order (a somatic chromosome/chromatid deletion and non-disjunction of the homologous chromosome). In case 3 (CVS: mos 46,XY/46,XY,19q+ de novo; amniotic fluid cells, lymphocytes, and fibroblasts: 46,XY), the surplus of chromosome material in 19q+ might be explained on the basis of a somatic translocation. The idea of a chimera is less convincing, as the mosaic finding is restricted to one tissue. Furthermore, there was no hint of a vanishing twin. Hitherto, no case of structural chromosome mosaicism in CVS has been reconfirmed in fetal tissues. 相似文献
112.
A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote arid (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins. 相似文献
113.
We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and chorionic villus cells showed that in CHS these lysosomes are significantly larger than those in normal cells. This method may be used for prenatal diagnosis of CHS by amniocentesis and chorionic villus sampling (CVS). 相似文献
114.
Data from 2907 transcervical CVS cases performed on singleton pregnancies were reviewed retrospectively and villus sample size was correlated with cytogenetic results, placental location, maternal age at the expected date of confinement (EDC), gestational age at the time of sampling, birth weight, gestational age at the time of delivery, and pregnancy outcome. No correlation was noted between villus sample size and maternal age, gestational age at sampling, gestational age at delivery, birth weight, or pregnancy outcome. An inverse correlation between villus sample size and percentage of abnormal cytogenetic findings was statistically significant (X2 = 8·53, p <0·01). The percentage of small samples was greater when the placenta was anterior, lateral, or fundal than when the placenta was posterior. 相似文献
115.
爆炸法处理废旧轮胎制造橡胶粉末技术及关键机理研究 总被引:6,自引:0,他引:6
主要介绍了利用爆炸法处理废旧轮胎制造橡胶粉末的技术 ;探讨了橡胶在爆炸作用下破坏的机理 ,爆炸法中橡胶变形速率与它的剪切模量和断裂韧性的关系 ;分析了利用直接爆炸法处理废旧轮胎的 3种实验结果 ,验证了对轮胎进行预处理的必要性 ,探讨了炸药用量的选择原则 相似文献
116.
多溴代二苯醚化合物的研究进展 总被引:7,自引:0,他引:7
多溴代二苯醚(PBDEs)作为防火阻燃剂,在世界范围内被广泛应用,它是一种环境内分泌干扰物,类似于甲状腺素T3、T4。现有的研究认为,PBDEs具有生物累积性。并影响甲状腺,神经和免疫等系统。该文主要对现有的PBDEs研究进展进行了总结,并着重介绍了PBDEs的毒性,以及对人类和生物体的暴露水平及其相关的分析方法。 相似文献
117.
118.
重铬酸钾法测定化学需氧量的几点体会 总被引:1,自引:0,他引:1
重铬酸钾法是测定工业废水中化学需氧量的国家标准方法,通过大量的实验对CODCr的实验进行探索,提出几点体会,在CODCr的测定中有一定的实用性。 相似文献
119.
综合评分指标体系在环境优先污染物筛选中的应用 总被引:3,自引:0,他引:3
介绍了一种用于环境优先污染物筛选的综合评分指标体系,并以上海市石化行业废气优先污染物的筛选为实例说明。 相似文献
120.
介绍了在2个监测点,用直接法测定大气中的非甲烷烃。测定方法的检出限可达0.0065mg/m^3,在线性范围0-10mg/m^3时,线性相关系数为0.9995,相对标准焦虑差为2.8%。结果表明,由于大气逆温层、工业排放源、汽车排气对非甲烷烃的浓度变化产生影响,其日变化曲线呈双峰形。 相似文献