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.     

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。     

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.     

Demonstration of spontaneously dividing male fetal cells in maternal blood by negative magnetic cell sorting and fish

We investigated a case of massive feto-maternal bleeding by using negative magnetic cell sorting (MACS) and fluorescent in situ hybridization (FISH). A 37-year-old pregnant woman had an uncomplicated amniocentesis for advanced maternal age at 16 weeks' gestation. The fetal karyotype was 46, XY. At 19 weeks' gestation, she had a minor car accident and slight vaginal bleeding. A subsequent Kleihauer-Betke test showed a 140 ml feto-maternal haemorrhage. Serial sonographic examinations indicated a normal fetus and placenta. We performed FISH analysis on maternal peripheral blood at 25 weeks. Anti-CD45 and MACS were used to deplete maternal leucocytes, enriching the proportion of fetal nucleated erythrocytes present. The isolated cells were analysed by using dual-colour FISH with X and Y specific probes. Approximately 65 800 nucleated cells were obtained after MACS depletion. A total of 234 cells were analysed by FISH. The results revealed that 70 of the nucleated cells (30 per cent) were male with one X and one Y signal. Among these cells, six male metaphases were observed in spontaneously dividing cells.     

不同离子注入工艺对45CrMoVE结构钢性能影响研究

目的 通过分析不同元素离子注入对结构钢耐腐蚀能力及力学性能的影响,筛选出最佳注入元素,以改善45CrMoVE结构钢的表面组成,提高其耐腐蚀性能。方法 基于前期研究工艺,开展Mo、Co、Ta、Ti等离子注入技术研究。将注入离子后的结构钢试样放入NaCl溶液中,分析不同元素离子注入对结构钢腐蚀电位的影响,结合盐雾腐蚀试验,研究不同离子注入对结构钢耐腐蚀性能的影响,同时结合X射线衍射技术和力学性能测试,对结构钢试样表面层的物相进行分析,研究离子注入对结构钢力学性能的影响。结果 氯化钠溶液在注入Mo离子后的自然腐蚀电位最高、最正,当基体材料中注入的Mo剂量为3×10¹⁷atoms/cm²时,腐蚀电位接近0.5 V,腐蚀电流最小。注入Mo离子后,试片的耐盐雾腐蚀性能最好。Mo离子与结构钢中的C原子相结合,在结构钢表面层形成较多的MoC和Mo2C等碳化物,提高了结构钢的耐腐蚀性能。离子注入层厚度尺寸小,注入离子后基本不改变基体材料的表面形貌和宏观力学性能。结论 离子注入能够有效改善结构钢的耐腐蚀性能,对于45CrMoVE结构钢试样,当注入3×10¹⁷atoms/cm²剂量的Mo离子、注入能量为130 keV时,离子注入对45CrMoVE结构钢耐腐蚀能力的改善效果最佳。