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排序方式: 共有1327条查询结果,搜索用时 813 毫秒
431.
François Vialard Giuseppe Simoni Denise Molina Gomes Azzedine Abourra Simona De Toffol Fabrice Bru Maria Carmen Martinez Romero Lucio Nitsch Philippe Bouhanna Livia Marcato Thomas Popowski Beatrice Grimi Jose Antonio Martínez-Conejero B. Benzacken Rita Genesio Francesca R. Grati 《黑龙江环境通报》2012,32(4):329-335
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The prenatal diagnosis of an 11q;22q translocation in a triplet pregnancy detected at the time of chorionic villus sampling (CVS) because of advanced maternal age is reported. Karyo-types obtained from two apparently different CV samples showed the balanced form of translocation, while the one obtained from a third empty sac showed the unbalanced form: 46, XX, −22, + der(22)t(11;22). Second-trimester amniocentesis confirmed the balanced translocation in one of the two viable fetuses and a normal karyotype in the other. The detected karyotypes derived from two different types of meiotic segregation, alternate and adjacent 1. To our knowledge, this is the first reported case of an unbalanced karyotype not due to a 3:1 meiotic segregation of this specific translocation. 相似文献
436.
An account is given of a pregnancy in an obligatory carrier of the fragile-X syndrome, in whom examination of chorionic villus cells and fetal blood cells showed the presence of a male fetus who lacked the fragile-X chromosome. However, at 3 months of age he had 14 per cent of fragile-X cells in his blood. Reasons are suggested for this error in diagnosis. The empirical risk for an error of this sort is 3 per cent. 相似文献
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Microscale Spatial Variation in Forest Litter Phytotoxicity 总被引:1,自引:0,他引:1
The spatial variation (within a 100 × 100 m plot) in the pollution of forest litter with heavy metals (Cu, Cd, Pb, and Zn), its acidity, and phytotoxicity (measured by the results of the root test using seedlings from a genetically homogeneous sample of common dandelion (Taraxacum officinale s.l.) have been estimated. Forest litter has been sampled in three zones differing in the toxic impact of long-term polymetal pollution by emissions from a copper-smelting plant emissions in the Middle Urals. The phytotoxicity variation is maximum in a moderately polluted plot, where both very high and very low pollution levels were observed, which determines a substantially nonlinear dose–effect relationship. The litter phytotoxicity is mainly accounted for by exchangeable forms of metals. Biological testing of samples from the most polluted plot has demonstrated marked antagonism between heavy metals and acidity. 相似文献
439.
Owen P. Phillips MD Lee P. Shulman Lisa A. Altieri R. Sidney Wilroy Donald S. Emerson John V. Dacus Sherman Elias 《黑龙江环境通报》1991,11(9):705-710
A 21 -year-old woman with progressively deforming or type III osteogenesis imperfecta (OI) presented for prenatal counselling and diagnosis at 10 weeks' gestation. Family history was non-contributory. At 14.8 weeks' gestation, ultrasonographic examination revealed fetal skeletal hypomineralization, easily compressible fetal cranium, and thickened long bones, indicating that the fetus was also affected. Confirmation of the prenatal diagnosis of OI type III was made following a Caesarean section birth of a male infant with multiple skeletal deformities and blue sclerae implying, in this case, autosomal dominant inheritance. 相似文献
440.
The investigation of 5547 prenatal diagnoses showed 31 unexpected structural chromosome rearrangements. These included 3 Robertsonian translocations, 14 reciprocal translocations and 14 inversions. A11 were balanced, including 5 de novo rearrangements. In 3 of these cases an induced abortion was performed and in 2 cases children without detectable malformations were delivered. 相似文献