Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)

Fibroblasts from a fetus with the prenatal diagnosis of mosaic trisomy 20 were cloned by dilution plating. Adenosine deaminase (ADA), a biochemical marker for chromosome 20, was assayed in trisomic clones and normal clones as control. The cytogenetic diagnosis was substantiated by demonstration of a triplex gene dosage effect for ADA in the trisomic cells.     

45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones

Amniocyte clones from a mid-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.     

Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y-chromosome marker,IDIC(Yp)

An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non-fluorescent marker. C-banding identified the marker as an isodicentric in 12 cells. In two cells, the non-fluorescent marker appeared to be monocentric and looked like a non-fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y-specific centromeric probe confirmed the Y-chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.     

45~#钢在西双版纳大气环境下的腐蚀研究

目的研究西双版纳热带雨林地区大气环境下材料的初期腐蚀行为。方法使用45#碳钢在西双版纳大气环境下进行1年的大气暴露腐蚀试验,并利用质量损失分析、SEM、XRD和FTIR等技术,分析45#碳钢在西双版纳大气环境下暴露1年的腐蚀行为。结果 45#碳钢的腐蚀产物以γ-FeOOH,Fe(OH)3和Fe3O4为主,并有少量的α-FeOOH。结论西双版纳大气环境腐蚀性为C2级。在暴露1年的时间内,锈层化学稳定性随试验时间的延长逐渐增强,对基体的保护性逐渐加大。     

Spillover of functionally important organisms between managed and natural habitats

Land-use intensification has led to a landscape mosaic that juxtaposes human-managed and natural areas. In such human-dominated and heterogeneous landscapes, spillover across habitat types, especially in systems that differ in resource availability, may be an important ecological process structuring communities. While there is much evidence for spillover from natural habitats to managed areas, little attention has been given to flow in the opposite direction. This paper synthesizes studies published to date from five functionally important trophic groups, herbivores, pathogens, pollinators, predators, and seed dispersers, and discusses evidence for spillover from managed to natural systems in all five groups. For each of the five focal groups, studies in the natural to managed direction are common, often with multiple review articles on each subject which document dozens of examples. In contrast, the number of studies which examine movement in the managed to natural direction is generally less than five studies per trophic group. These findings suggest that spillover in the managed to natural direction has been largely underestimated. As habitat modification continues, resulting in increasingly fragmented landscapes, the likelihood and size of any spillover effect will only increase.     

酸性pH及铝对鲤鱼（Cyprinus carpio）吸收^45Ca的影响

本文用放射性核素~(45)Ca作为示踪剂,研究在酸性pH及加铝的条件下,鲤鱼(Cyprinus carpio)对钙离子的吸收分布情况.结果表明,在pH值为7.10时,~(45)Ca在鲤鱼体内各器官的96h放射仕比度为鳃13886 cpm·g~(-1),骨骼10811 cpm·g~(-1),肝脏3276cpm·g~(-2)·肌肉2865cpm·g~(-1);在酸性pH(4.30)条件下,鲤鱼对钙离子的吸收和积累受到明显抑制;加铝后,鲤鱼体内各器官~(45)Ca放射性比度与未加铝的对照组相比,下降百分比分别为鳃42、4%.骨骼18 5%,肝脏44、2% 并讨论了酸雨危害鱼体钙代谢的可能影响.     

低pH值及铝对深鳅吸收45Ca的影响

为了探讨低ｐＨ和铝对水生生物的毒性或联合毒性效应,进一步研究钙缓解作用机理,用放射性核素＾４５Ｃａ作为示踪剂,研究在低ｐＨ值及加铝条件下,泥鳅（Ｍｉｓｇｕｍｕｓａｎｇｕｉｌｌｉｃａｕｄａｔｕｓ）对钙离子的吸收分布情况,结果表明,生长在ｐＨ在７．１０时,＾４５Ｃａ在泥鳅体内各器官的９６ｈ放射性比度为,皮肤３９５３２ｃｐｍ／ｇ,骨骼３８１１６ｃｐｍ／ｇ,鳃２５４９５ｃｐｍ／ｇ,肌肉１６５１ｃｐｍ／ｇ低     

Prenatal diagnosis of 45,X/46,XY mosaicism—A review and update

A total of 54 cases with prenatal diagnosis of 45,X/46,XY mosaicism was reviewed. Of 47 cases with information on phenotypic outcome, 42 cases (89·4 percent) were reported to be associated with a grossly normal male phenotype. Three cases (6·4 percent) were diagnosed as having mixed gonadal dysgenesis with internal asymmetrical gonads. Two other cases were questionably abnormal. In 40 cases with successful cytogenetic confirmatory studies, the overall rate of cytogenetic confirmation of 45,X/46,XY from tissues derived from fetus/liveborn/placenta was 70·O per cent. This review shows a major difference in the phenotypic outcome between postnatal diagnosis and prenatal diagnosis. Due to the ascertainment bias, almost all known patients with postnatal diagnosis of 45,X/46,XY mosaicism are phenotypically abnormal. Therefore, caution must be used in translating information derived from postnatal diagnosis to prenatal diagnosis. This review calls for collection of more data on 45,X/46,XY mosaicism diagnosed prenatally, more long-term follow-up of liveborn infants, and pathological studies of all abortuses. Emphasis is placed also on the importance of genetic counselling, ultrasound examination, and cytogenetic confirmation.