Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X-centromeric probe

The karyotype of cultured amniotic fluid cells obtained on the indication of advanced maternal age was shown to be a mosaic 45,X/46,X,r(?). The small size and banding pattern made it difficult to determine whether the ring was derived from and X or a Y chromosome, or even from an autosome. By using an X-centromeric probe and fluorescence in situ hybridization (FISH), we demonstrated the ring to have an X centromere. Thus, a more complete genetic counselling was possible. This confirms the usefulness of FISH in identifying and characterizing this and other chromosome rearrangements in prenatal diagnosis.     

An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line

We report a 16-month-old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY,+r(20)/47,XY,+20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with previously reported cases of mosaic trisomy 20 detected prenatally and associated with an abnormal phenotype. In an attempt to characterize an r(20) syndrome, we also compared our case with two similar reports in the literature.     

The significance of prenatal diagnosis of choroid plexus cysts

A case is described of the prenatal diagnosis of choroid plexus cysts at 17 weeks' gestation which persisted beyond 36 weeks but could not be detected after delivery. At birth the child was found to have trisomy 18.     

Characterization of marker chromosomes by microdissection and fluorescence in situ hybridization

We characterized by microdissection and fluorescence in situ hybridization (FISH) two marker chromosomes: (1) a de novo, acrocentric marker chromosome detected in 88 per cent of the amniotic fluid cells of one of two physically and developmentally normal twins; and (2) a metacentric marker chromosome present in a phenotypically normal female. Analysis of FISH probes developed from the marker chromosomes indicated that the marker chromosomes in cases 1 and 2 were del(14)(q11) and a derivative chromosome from a Robertsonian translocation, respectively. Microdissection in combination with FISH may prove to be a valuable technique in determining the chromosomal origin of de novo marker chromosomes and unbalanced structural rearrangements detected during prenatal diagnosis.     

Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative european study on 52 965 amniocenteses

Maternal age specific rates for all major chromosome aberrations have been determined in 52 965 pregnancies in mothers 35 years of age and over at the time of amniocentesis. Rates increase exponentially with advancing maternal age for trisomies 21, 18 and 13, and for the XXX and XXY syndromes, but in the autosomal trisomies this rise appears to be followed by a levelling off at the upper end of the age range. A significant inverse relationship with maternal age is found for 45,X cases. It is postulated that these various patterns are the result of the interaction of three principal factors: a maternal age effect acting particularly on first meiotic nondisjunction: a higher spontaneous abortion rate with advancing maternal age for aneuploid as compared to euploid conceptions; and an increased probability of spontaneous abortion before the time of amniocentesis for conceptions with more extensive chromosome imbalance. A stepwise logistic regression analysis of 13 299 pregnancies in which both parental ages are known shows that the father's age does not influence these maternal age specific rates, with the possible exception of the 47,XXY syndrome.     

金堆城超大型钼矿床水-岩δD-δ~(18)O同位素交换体系理论模型及成矿流体来源

基于水-岩δD-δ18O同位素交换体系理论模型的建立和计算，对金堆城超大型斑岩钼矿四个不同成矿期中成矿流体的演化和来源进行了研究，发现在成矿前期和早期，成矿流体为岩浆水与围岩在较低水／岩比值（0．1W／R＞0．001）和中、高温（t=250～500℃）条件下反应后的残余流体，而主成矿期和成矿晚期的成矿流作为大气降水在相对较高水／岩比值（0．5＞W／R0．1）和中、低温（t＝150～310℃）条件下与围岩反应后的残留流体。大气降水在金堆城钼矿成矿过程中起了重要作用。在主成矿期水／岩比值达到最高。     

两种奥氏体不锈钢酸性盐雾腐蚀行为研究

目的研究0Cr18Ni9(钝化)不锈钢与0Cr18Ni10Ti(钝化)不锈钢在酸性盐雾条件下的腐蚀行为,为发动机零件选材及防护措施的改进提供依据。方法按GJB150.11A—2009《军用装备环境试验方法盐雾试验》进行,调节溶液p H到3.5±0.5,以24 h喷雾润湿+24 h干燥为一个循环,分别开展2(96 h)、4(192 h)、5(240 h)个循环的酸性盐雾试验。采用目视、称量、X射线衍射(XRD)、扫描电子显微镜(SEM)及能谱仪(EDS)对盐雾腐蚀后试样进行观察及分析。结果 0Cr18Ni9(钝化)与0Cr18Ni10Ti(钝化)两种奥氏体不锈钢均发生了轻微的腐蚀,主要为局部腐蚀及均匀腐蚀。结论两种金属在酸性盐雾条件下耐蚀性良好,且可满足目前海军型发动机对材料耐酸性盐雾腐蚀的要求,0Cr18Ni9(钝化)略优于0Cr18Ni10Ti(钝化)。     

Neural tube defects in trisomy 18

In a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6·2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects.     

Early prenatal diagnosis of an infratentorial arachnoid cyst: Association with an unbalanced translocation

Arachnoid cysts are an uncommon central nervous system malformation, representing only 1 per cent of all intracranial masses. We report the second-trimester prenatal diagnosis of a posterior fossa arachnoid cyst, associated with an unbalanced X;9 translocation.     

A prospective study of the incidence and significance of fetal choroid plexus cysts

Cysts of the choroid plexus of the lateral ventricle can be detected in the fetus during routine scanning at 16–18 weeks' gestation with an approximate incident of one in every 120 pregnancies. It is likely that in a high percentage of cases cysts are bilateral and that their recent discovery is mainly due to improvements in imaging technology. Although the great majority of cases resolve and do not result in any morbidity, five cases of trisomy 18 and one case of trisomy 21 associated with fetal choroid plexus cysts have been reported. In this prospective study, choroid plexus cysts were detected in 42 fetuses, resulting in 40 normal infants and 2 cases of trisomy 18. It is concluded that there may be a relationship between fetal choroid plexus cysts and trisomy 18. In order to obtain a more precise and accurate result, a multi-centre prospective study is being organized.