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141.
A prenatally ascertained case with a de novo small supernumerary marker chromosome (sSMC) derived from chromosome 1 is reported. Due to a fetal heart defect the parents decided in favour of an induced abortion. Postmortem, a molecular cytogenetic study on eleven formalin fixed, paraffin-embedded tissues of the fetus was performed, to further characterize the levels of mosaicism of the sSMC(1). sSMC presence varied between 13 and 62% within different tissues of sSMC carriers. This finding is something common in sSMC carriers and could explain why up to the present no clinical correlations for sSMC mosaicism and clinical outcome in the corresponding carriers could be established. Copyright © 2007 John Wiley & Sons, Ltd.  相似文献   
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We describe the finding of three cell lines involving different structural abnormalities of chromosome 8 detected in a prenatal diagnosis. Chorionic villi sampling (CVS) was performed on a pregnant woman because of advanced maternal age. Semidirect cytogenetic analysis showed a mos46,XX,i(8q)/46,XX,del(8)(p11.2) karyotype, confirmed by fluorescence in situ hybridization (FISH). Amniocentesis was subsequently performed, and the karyotype obtained was 46,XX,dup(8)(p23p11.2). The pregnancy was terminated; pathologic findings included clubfeet, clenched left hand, subcutaneous edema and bilateral hydrocephalus. Molecular studies using chromosome 8 microsatellites performed on parents' blood and fetal tissues revealed a maternal meiotic origin of the inv dup(8p) with deletion of the distal p23 region and duplication of the remaining 8p. We propose a model to explain the cytogenetic findings, which includes a first maternal meiotic error giving rise to a large dicentric isochromosome 8 present in the ovum, a second error in one of the first zygote divisions with misdivision of the dicentric 8 giving rise to a cell line with del(8p) confined to the trophoblast and another cell line with inv dup(8p) confined to the fetal tissue and a third error in the trophoblast giving rise to a further cell line with isochromosome 8q. Copyright © 2003 John Wiley & Sons, Ltd.  相似文献   
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对盐津5.1级地震的地震活动性、前兆异常特征进行了分析研究,主要为地震预测预报积累经验,提供地震预报依据.分析研究盐津地震活动在时间、空间和强度等方面的规律,从理论上认识地震前的地震前兆变化、形态表现等明显的异常特征.  相似文献   
146.
溧阳台体应变异常与地震的对应关系研究   总被引:1,自引:0,他引:1  
地震预报的基础是要有连续可靠的高质量的观测资料。地震台站一线的工作人员对本台产出的观测资料的可靠性最有发言权,溧阳地震台的体应变观测资料在历年的全国资料质量评比中连续6年获得前三名。本文通过对江苏溧阳地震台体应变观测资料的分析研究,发现1996年11月09日在南黄海6.1级地震和1997年07月28日在南黄海5.1级地震,台湾1999年09月21日7.6级地震和2002年03月31日7.5级地震以及2001年11月14日青海8.1级地震前后,该台体应变资料有较明显的前兆异常反应,并且有一定的变化规律和异常特征,通过对这种规律的总结对地震预报有一定的参考价值,为此,我们对这种规律认真的分析总结,以提供给大家参考。  相似文献   
147.
A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies. Confirmatory studies on cultured placental villi cells indicated a second cell line, 46,XY, −13,+ 13qter→cen::13ql3→qter. This cell line was not detectable in cells derived from the fetus despite extensive studies. It seems likely that the two cell lines arose simultaneously with selection favouring the 46,XY,r(13) line. How the chromosome rearrangements may have arisen is discussed. We are unaware of other cases where a cell line identifiable by a chromosome abnormality appeared to be confined to placental tissue. However, studies on placental tissue may be helpful in understanding the origin of other unbalanced de novo rearrangements.  相似文献   
148.
This paper describes a case of pseudomosaic centric fission of chromosome 4 detected in amniotic fluid cell culture. The pregnancy went to term and the newborn had a normal chromosomal constitution.  相似文献   
149.
Extratropical cyclones have attracted some attention in climate policy circles as a possible significant damage factor of climate change. This study conducts an assessment of economic impacts of increased storm activities under climate change with the integrated assessment model FUND 3.5. In the base case, the direct economic damage of enhanced storms due to climate change amounts to US$2.8 billion globally (approximately 38% of the total economic loss of storms at present) at the year 2100, while its ratio to the world GDP is 0.0009%. The paper also shows various sensitivity runs exhibiting up to 3 times the level of damage relative to the base run.  相似文献   
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