新疆巩留县博图沟泥石流灾害及灾因分析

本文分析了1991年新疆博图沟罕见泥石流灾害及灾因,认为这次灾害主要是自然因素,与人为因素关系不大,并提出了在山区工作、游牧应注意的事项。     

灰关联分析在故障树诊断中的应用

介绍一种灰色诊断法。在故障诊断模式识别中,运用灰关联分析,依据故障树的底事件重要度,通过关联度计算及排序,对故障树分析中,各种故障模式发生的可能性大小作出了准确的判断,从而为处理事故的先后、缓急提供了依据。     

中国环保事业的回顾与展望

1970年至现在的30年,中国的环境保护事业大致经历了三个阶段:1970年至1978年,是中国环境保护的萌芽和起步阶段;1979年至1991年,是中国环境保护的奠基和成长阶段;1992年至现在,是中国环境保护的发展和壮大阶段。本文对中国环保事业的发展历程进行了回顾和论述,在此基础上,展望了环境保护的前景,抒发了梦想与期待。     

Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis

We describe a 4-year-old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation. Post-natal high-resolution karyotype, Fluorescence in situ hybridization (FISH) screening for subtelomeric rearrangements, VNTR search for UPD15 in the blood and fibroblast, and WCP1 and 15 in the mother, failed to provide an explanation for the complex clinical phenotype of the proband. Since the pachytene configuration of the translocated chromosomes defines a high probability of 3:1 segregation, an extensive workup was undertaken to look for a possibly cryptic mosaicism. Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH analysis. The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed. Copyright © 2006 John Wiley & Sons, Ltd.     

Hyper-echogenic colon: a prenatal sign of cystinuria?

We suggest the term ‘hyper-echogenic colon’ to describe a hyperechoic foetal colonic content with no other intestinal abnormality. This is a rare pattern, which to our knowledge, has never been correlated with a specific pathology. The accidental observation of a cystine kidney stone in an infant who presented with this sign during the prenatal period made it possible to diagnose this disease retrospectively in two other children. Copyright © 2006 John Wiley & Sons, Ltd.     

Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes

Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular–cytogenetic analysis of terminal chromosome rearrangements. In a prospective study, we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian chromosome translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced chromosome anomalies of a fetus that could result from parental translocations. Copyright © 2002 John Wiley & Sons, Ltd.