Prenatal diagnosis of monosomy 4p14→pter and trisomy 11q25→qter: clinical presentations and outcomes

We present the case of a pregnant woman with low free β-HCG in maternal serum Down syndrome screening that led to prenatal diagnosis of a fetus with 46,XY,der(4)t(4;11)(p14; q25). This chromosomal aneuploidy resulted from unbalanced segregation of a paternal balanced translocation, t(4;11)(p14;q25). Prenatal ultrasound revealed intrauterine growth restriction, cleft lip and palate, a thick nuchal fold, a single umbilical artery, and pyelectasis. Array-based comparative genomic hybridization and short tandem repeat markers further located the exact breakpoint of translocation. The woman had her pregnancy terminated at 23 weeks of gestational age. The proband had general appearance of Wolf–Hirschhorn syndrome and some unique findings, including single umbilical artery, severe immunoglobulin deficiency, scalp defect, and underlying bony defect. Our case underscores the importance of fetal karyotyping when low maternal serum free β-HCG is found. It also adds information on the fetal presentations of monosomy 4p14→pter and trisomy 11q25→qter. Copyright © 2005 John Wiley & Sons, Ltd.     

Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5

We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings. Copyright © 2005 John Wiley & Sons, Ltd.     

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important cause of hereditary stroke. Mutations in the Notch3 gene are clearly causally linked to this progressive vascular disorder. Cerebral ischemic attacks, cognitive decline, strokes, and vascular dementia constitute the major manifestations of this disorder. This report details the prenatal detection of a Notch3 mutation in the fetus of a couple where the father had a known mutation in this gene. This is the first report of a prenatal diagnosis of CADASIL, and another example of a serious, highly penetrant, and relentlessly progressive degenerative genetic disorder presenting decades after birth and for which prenatal diagnosis is an option. Copyright © 2005 John Wiley & Sons, Ltd.     

A novel L1CAM mutation with L1 spectrum disorders

X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. X-linked hydrocephalus and associated phenotypes are due to mutations in the L1CAM gene, which has been identified as a coding neural cell adhesion molecule. We report two cases of L1 spectrum disorders within the same family. The first case was diagnosed by ultrasonographic examination prenatally and the second case was diagnosed postnatally. Both patients and their mothers carry a novel mutation of the L1CAM gene. In this family, nine X-linked hydrocephalus and five female carriers were found in three generations, and molecular genetic analysis was performed to detect the asymptomatic carriers. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatally detected double trisomy: Klinefelter and Down syndrome

Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of using biochemical screening which, in our case, were crucial in arriving at the correct diagnosis. Copyright © 2006 John Wiley & Sons, Ltd.     

浅水富营养湖泊生态修复效应时间序列与诊断研究

2008年3月至2009年9月对紫阳湖生态修复效应进行了全程跟踪监测及诊断指示研究。研究表明,通过水生生物群落构建,水生态环境有了明显改善,全湖水质达到地表水IV标准,透明度上升到100 cm左右,叶绿素a下降到10 mg/m3以下。生态修复后各指标50%的效应时间序列为Chla、DO、SD、TP、NH3-N、TN和COD。研究认为,Chla/SD作为湖泊水质指数(LQI)是检验生态修复效果较敏感的指标,可用于浅水富营养湖泊生态修复后水质的诊断和评价。     

植物及土壤碳同位素组成对环境变化响应研究进展

植物和土壤的δ13C（碳同位素组成）能可靠记录环境信息,综合反映植物的生理生态特征以及碳循环过程中的生物化学过程,为人们理解生态系统碳循环提供有用信息.因此,研究植物和土壤的δ13C与环境因子的关系可以揭示生态系统碳循环的格局及其控制因子,进而有效预测全球变化及其对生态系统的影响.对植物和土壤的δ13C以及二者的差值（Δδ13C）与气候因子（如温度、降水量、大气压强等）、土壤因子（如C/N、土壤质地、土壤pH等）的关系进行了综述.现有研究表明:C₃植物的δ13C与降水量、大气压强均呈负相关,与温度的关系非常复杂,而针对C₄植物和在群落水平上开展的研究还较少;土壤δ13C与降水量、土壤C/N、土壤w（粉粒）及w（黏粒）均呈负相关,与温度、土壤pH、土壤w（砂粒）均呈正相关,然而环境因素间的耦合作用使得情况复杂化,多种环境因素的匹配关系究竟如何影响土壤δ13C的机制问题仍有待深入研究;Δδ13C能够更加全面准确地反映土壤碳循环信息,但对其与环境因子关系的研究较少,并且影响Δδ13C的驱动因子及机制也不明确.因此,在土壤-植物体系内,同时在物种和群落水平上,进行植物和土壤δ13C特别是Δδ13C与环境因子关系的研究,能够更加准确地预测和揭示环境变化对生态系统碳循环的影响,这也将是今后该领域的研究重点.