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排序方式: 共有317条查询结果,搜索用时 15 毫秒
81.
82.
A twin pregnancy with trisomy 10 p due to a paternal 10;12 translocation is reported. The prenatal diagnosis steps followed in twin pregnancies are reviewed and the concordant features of trisomy 10 p seen in both fetuses confirm previous reports on the clinical features of this chromosomal defect. 相似文献
83.
Prenatal diagnosis of tetrasomy 12p is complicated by the discrimination of the 12p isochromosome from the duplication 21q as well as the level of mosaicism demonstrated in the particular tissue sampled. In this disease, a high percentage of chromosomally abnormal cells are generally found in fibroblastic cells, but lymphocyte karyotypes from the same individual may be normal. We report on the pregnancy of a 37-year-old female who presented to our centre at 16 weeks' gestation for genetic amniocentesis. Sonography of the fetus revealed dextrocardia and diaphragmatic hernia. Chromosome analysis of amniocytes demonstrated mosaicism of a 47,XY,+i(12p) line in 80 per cent of cells and a normal male line (20 per cent), consistent with the Pallister-Killian syndrome. Following termination, a 220 g male fetus of 18 weeks was examined. A flattened nose and low-set ears were noted. In situ hybridization with a chromosome 12 centromeric probe in lymphocytes and skin cells unequivocally confirmed the karyotype and showed the presence of a single centromere in the abnormal chromosome, suggesting a true isochromosome. Chromosome analysis of various fetal tissues was performed and the following percentages of abnormal cells were found: skin 100 per cent, chorion 50 per cent, placenta 30 per cent, and blood 80 per cent. The high frequency of tetrasomic cells in fetal blood at this early gestational age is noteworthy, since most reports of this syndrome show a very low percentage of abnormal cells postnatally. 相似文献
84.
Boris B. T. Wang Ph.D. Loh-Chung Yu Willow Peng Rena E. Falk John Williams III 《黑龙江环境通报》1995,15(12):1115-1119
An i(Yp) is a rare marker chromosome. We present a case of de novo 46,X,i(Yp) detected prenatally in an amniotic fluid specimen. Fluorescence in situ hybridization (FISH) studies using a panel of Y-specific biotinylated DNA probes identified the marker chromosome as i(Yp). Comparative genomic hybridization (CGH) studies further confirmed the diagnosis. Upon pregnancy termination, external examination of the fetus revealed a generally well-developed male fetus with slight facial dysmorphism and prominent rocker-bottom feet. The molecular cytogenetic data in this case proved very useful in genetic counselling and served as a good example illustrating the important role of molecular techniques for accurate identification of marker chromosomes. 相似文献
85.
86.
A case of mosaic tetrasomy 12p was detected in amniotic fluid cell cultures from a 28-year-old woman referred to us at 26 weeks' gestation because of hydramnios. The fetus was shown on ultrasonography to have an omphalocele and a short femur length. Labour was induced at 32 weeks. An infant with multiple congenital anomalies was delivered and died after 10 min. The diagnosis of i(12p) or Pallister-Killian syndrome was confirmed cytogenetically in fibroblast and lymphocyte cultures. Increased LDH-B activity was demonstrated in fibroblasts. 相似文献
87.
In this work, the effect of initial temperature on the explosion pressure, Pex, of various liquid fuels (isooctane, toluene and methanol) and their blends (isooctane-toluene and methanol-toluene, with three different fuel-fuel ratios) was investigated by performing experiments in a 20-l sphere at different concentrations of vaporized fuel in air. The initial temperature was varied from 333 K to 413 K.Results show that, as the fuel-air equivalence ratio, Φ, is increased, a transition occurs from a “thermodynamics-driven” explosion regime to a “radiant heat losses-driven” explosion regime. The maximum pressure, Pmax, is found in the former regime (Φ < 3), which is characterized by a trend of decreasing Pex with increasing initial temperature. This trend has been explained by thermodynamics. In the latter regime (Φ > 3), Pex increases with increasing initial temperature. This trend has been addressed to the decrease in emissivity (and, thus, radiant heat losses) with the increase in temperature. 相似文献
88.
为充分了解20#钢在塔河油田集输管线工况环境中的腐蚀行为,采用高温高压釜研究CO2/H2S分压比、温度和pH值对20#钢在CO2/H2S环境中的腐蚀规律的影响,并利用扫描电镜(SEM)分析腐蚀产物形貌特征。结果表明:CO2分压不变时,随着H2S分压的增加,20#钢的腐蚀速率先增大后减小,H2S分压为0.01 MPa时的腐蚀速率达到最大0.435 mm/a;随着温度的升高,20#钢的腐蚀速率逐渐增大,在100℃时腐蚀速率高达2.280 mm/a;CO2控制下20#钢的腐蚀速率随着pH值的增大而减小;H2S控制下20#钢的腐蚀速率随着pH值的增大而增大。 相似文献
89.
Houda Karmous-Benailly Anne-Claude Tabet Adeline Thaly Olivier Dupuy Yolène Huten Dominique Luton Clarisse Baumann Anne-Lise Delezoide 《黑龙江环境通报》2005,25(3):193-197
Trisomy of the short arm of chromosome 4 is a well-known syndrome, and several observations have been made in the last 30 years. Herein, we report a new observation of trisomy 4p in a fetus with a semi-lobar holoprosencephaly (HPE), dysmorphic features and multiple malformations. The diagnosis of HPE was made, at 33 weeks' gestation, on the fetus of a healthy G1P0 woman. Amniocentesis was performed for chromosome analysis and additional material was found on a chromosome 22. The couple elected to terminate the pregnancy and fetal examination was realized. Conventional and molecular cytogenetic studies were performed on the fetus and the parents, which showed that the additional material found on one chromosome 22 corresponded to the short arm of chromosome 4 and therefore led us to establish a diagnosis of trisomy 4p inherited from the malsegregation of a paternal translocation t(4;22)(q12;q11.1). The etiology of HPE is very heterogeneous; it includes non-genetic factors such as maternal diabetes and genetic causes. HPE cases have been described in association with many chromosomal anomalies, trisomy 13 being the most frequent. However, to our knowledge, HPE has never been previously reported in association with a trisomy involving solely the short arm of chromosome 4. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献