Mosaicism of isochromosome 18p.

The first case of isochromosome 18p as a mosaic in a male fetus diagnosed by amniocentesis is reported. After termination of the pregnancy at 21 weeks gestation biopsies from different fetal organs as well as from the placenta were taken and set up for long term cell cultures. The distribution of the normal and abnormal cell-line in fetal organs was unequal. Unexpectedly the metaphases in the placenta and the lymphocyte culture all showed a normal karyotype. The tetrasomy 18p is associated with a uniform phenotype, even in fetal life, characterized by a small head with protuberant occiput, low-set ears with posterior rotation, epicanthic fold, sharp pinched nose, convex and poorly formed philtrum, high-arched palate, retrognathia, flexion contractures of fingers, short and broad hallux, hypoplastic penis, angulation of clavicles and mild scoliosis. The propositus showed no growth retardation.     

对硝基苯酚在沉积物上的吸附特征---吸附等温线和吸附热力学

研究了对硝基苯酚在不同沉积物上的吸附等温线,比较分析了Linear方程、Freundlich方程和Langmuir方程描述吸附等温线的准确性和稳定性结果表明,Iinear方程更适合描述沉积物吸附对硝基苯酚的等温线对硝基苯酚在沉积物上的吸附主要是溶质在沉积物有机质中的分配,其吸附热为-7 8 kJ@mol-1,主要的吸附作用力为疏水键力.对硝基苯酚在18个沉积物有机质上吸附自由能改变量为-5 4--7.2kJ@mol-1.标准自由能的变小是对硝基苯酚在沉积物有机质上吸附的推动力.     

Prenatal diagnosis of Pallister–Killian syndrome: Resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization

We report a case of Pallister-Killian syndrome initially diagnosed prenatally as tetrasomy 21. A 33-year-old primiparous woman was noted at 24 weeks' gestation to have moderate polyhydramnios. Ultrasonography showed diminished fetal stomach filling, hydronephrosis, and prominence of the cisterna magna. Cytogenetic analysis of cultured amniocytes was initially interpreted as mosaic tetrasomy 21: 46,XX/47,XX,+i(21q). The patient was then referred to our centre for genetic counselling. At 34 weeks' gestation, a dysmorphic infant was delivered and died within 30 min. Physical features were consistent with the Pallister-Killian syndrome. Renal, gastrointestinal, and central nervous system anomalies were found at post-mortem examination. Analysis of peripheral lymphocytes revealed 5 per cent of cells with a marker chromosome, while 92 per cent of cultured fibroblasts had this same marker. Fluorescent in situ hybridization (FISH) using an alpha-satellite probe for chromosomes 13 and 21 failed to hybridize to the marker, while a chromosome 12 centromeric probe unequivocally identified it as an i(12p). Use of FISH can provide rapid, specific prenatal diagnosis of ambiguous marker chromosomes and improve prenatal counselling.     

灌溉污水中苯并(a)芘最高容许浓度的探讨

苯并(a)芘是一种强致癌物,在环境和食品中普遍存在,并能在土壤和生物体内蓄积,最高容许浓度的确定应考虑到环境中的“本底”水平和灌溉水中的实际含量以及对机体的毒理危害程度,建议灌溉污水中苯并(a)芘的最高容许浓度为0.05μg/L.     

纳米Fe3O4的制备及其对对硝基甲苯的催化降解

采用共沉淀法制备了纳米四氧化三铁（Fe3O4），并进行必要表征，制备所得的Fe3O4粒径与商品Fe3O4相当，均为15～20nm。在中性、碱性条件下，制备的材料表面带负电，而在弱酸性条件下，则带正电。制备出的Fe3O4与商品的Fe3O4一样，对对硝基甲苯具有相同的机械催化降解效率，均符合准一级反应动力学。     

高频超声辐照降解水中4-氯酚的研究

本文着重探讨了高频超声波 (1.7MHz)降解 4 氯酚的反应过程和反应机理 ,研究了高频超声波降解 4 氯酚的效果 ,并讨论了 4 氯酚初始浓度等因素对降解效果的影响。高频超声波降解 4 氯酚为一级反应 ,超声波空化效应在降解过程中起主导作用     

Prenatal diagnosis of trisomy 10 p in a twin pregnancy

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.     

Prenatal diagnosis of tetrasomy 12p by in situ hybridization: Varying levels of mosaicism in different fetal tissues

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.     

测定地表水中微量亚硝酸盐的灵敏光度法

研制了一种测定微量亚硝酸盐的灵敏光度法。在pH1 0～ 2 0盐酸介质中 ,亚硝酸盐与对氨基苯乙酮 萘乙二胺形成可溶于水的红紫色染料 ,其最大吸收波长为 5 5 0nm ,摩尔吸光系数为 5 78× 10 4L mol·cm。 0～ 3 6 μg 2 5mL的亚硝酸盐遵守比尔定律 ,方法应用于测定地表水中微量亚硝酸盐 ,获得了满意的结果     

A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)

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.