Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.     

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Human parvovirus B19 infection and unbalanced translocation in a case of hydrops fetalis

In a case of hydrops fetalis, serological examination showed a recent maternal human parvovirus B19 infection. Amniocentesis revealed a unique unbalanced translocation between chromosomes 3 and 11 of the fetus. The mother proved to have a balanced reciprocal translocation between chromosomes 3 and 11. A grossly macerated hydropic male fetus was delivered with a flat nose and low implanted deformed ears. Histopathological examination revealed nuclear inclusion bodies in fetal erythroid cells, confirming human parvovirus B19 infection. Parvovirus B19 DNA was demonstrated by in situ hybridization in the nuclei of heart muscle cells. Our finding of two different disorders in one case illustrates the importance of a complete evaluation of every case of hydrops fetalis, especially concerning counselling on the outcome of future pregnancies. The human parvovirus B19 infection will not recur due to the acquired immunity of the mother, whereas the balanced reciprocal translocation will endanger future pregnancies.     

The 48,XXYY syndrome: A case detected by maternal serum alpha-fetoprotein screening

A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features.     

Chromosome preparations of both direct and long-term cultures from the same fragment of chorionic villi

A simplified method is described for processing both direct preparations and long-term cultures from the same fragment of chorionic villi. Enzyme separation of the outer trophoblast layers (used for direct preparations) from the inner mesenchymal core (used to initiate long-term cultures) facilitates the utilization of the same fragments for the two procedures, without jeopardizing the success of either method. This has proved useful in cases where the sample was so small that only one method of chromosome preparation may have been possible using other techniques.     

效益型资源化啤酒废水处理技术应用及效果

本项处理技术屏弃了以往环境处理技术沿用的生产末端处理路线.根据啤酒生产工艺特点,在全面分析,平衡工艺废水的特性,数量及排放规律的基础上提出综合治理方案,着重于从废水中提取有用物质和能源,治理过程中把废水当做资源加以利用,而且具有明显低投入高增益的经济效益.装置2年来运行结果证明:核心技术——UASB 高效,实用,易操作,运行稳定居国内领先水平,其主要技术指标达到国内外同类研究的先进水平.该项技术可在啤酒行业及以粮食为原料的其它酿造行业和食品加工业中推广应用,并已被国家科委列为《国家级科技成果重点推广计划》及国家环保局最佳实用技术.     

False-negative amniotic fluid acetylcholinesterase in a case of meningo-encephalocele

We describe a patient with a significantly elevated serum alphafetoprotein (AFP) concentration at 17 weeks of gestation, who showed only a marginally increased amniotic fluid AFP and lacked the second rapidly migrating band of acetylcholinesterase electrophoresis. Ultrasound examination revealed an encephalocele and ventriculomegaly. Autopsy showed that the encephalocele was not covered by skin.     

云南热海热田中的碱金属元素

1982至1983年在云南腾冲一已知水热区及其毗邻约 60km² 范围内采集了131个土壤样品。样品分析结果表明锂和铷的异常能圈定两个已知水热区,且与若干已知热田地球化学指示元素的异常相当一致,从而进一步肯定了这一地区的开发前景。与此同时,对区内水样中的钠钾含量也进行了测定并做出解译。锂铷和已知地球化学指标之间的相关分析表明它们之间确存有某种内在联系,同时可看出盐湖与古地热系统之间的一些联系。最后得出结论:土壤中的锂铷可作为圈定热田的地球化学指标;地热系统不仅能作为能源资源而且也应视作矿产资源。