Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis

A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

生态足迹影响因子的定量分析

人口的膨胀和人类工业化进程的加剧，使得人类向自然界获取越来越多的资源，同时向环境源源不断的输入废弃物，已经严重超过了自然生态系统的供给能力和环境容量，生态环境日益恶化，水土流失、草场退化、植被消亡、生物多样性锐减、全球变暖等情况已经严重到难以遏制的地步，危及到人类自身的生存。在和平与发展成为世界两大主题的今天，人们越来越关注可持续发展的问题。在现有资料的基础上，利用主成分分析方法，定量地讨论了中国各省（区市）1999年生态足迹大小与其影响因子间的关系。结果表明，生态足迹的大小是各省（区市）的大中型企业个数、全社会固定生产投资等众多因子共同作用的结果，其中总人口和GDP是生态足迹大小的主要影响因子，其因子载荷量分别达到了0.940和0.913。值得一提的是非农业人口与生态足迹的相关系数超过了农业人口，这说明由于消费模式和生活水平等的差异，非农业人口对生态足迹的影响大于农业人口对生态足迹的影响。在此基础上建立了生态足迹影响因子的多元线性回归模型，以期为生态足迹在进行区域可持续发展评价的方法上提供新的思路。     

Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15

We report on the prenatal diagnosis of ring chromosome 15 in a fetus with increased nuchal fold and intrauterine growth restriction (IUGR). A 27-year-old woman gravida 2, para 1 had normal maternal serum screen tests in the early second trimester of the index pregnancy. Fetal nuchal fold thickening up to 8 mm was incidentally found during the routine obstetric ultrasound scan at 20 weeks' gestation. Amniocentesis was undertaken and the fetal karyotype was found to be 46,XY,r(15) on cytogenetic study. Fluorescence in situ hybridization (FISH) using a telomeric probe of chromosome 15 demonstrated a terminal deletion on the q arm of the ring-shaped chromosome 15. This is the first report of a prenatally diagnosed case of ring chromosome 15. Moreover, nuchal fold thickness in the second trimester may have a role in its prenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.     

圆形烟道烟尘采样点位置确定之正误

采样点位置的确定是烟尘测试中的一项基础工作。在全国沿用10多年的确定圆形圆形烟道烟尘采样点位置的计算表中的数据,经验算有60％有误;原来以烟道中心为基准的计算公式虽然正确,但实用性差。为了进一步完善烟气测试理论,提高监测质量,提出以烟道内壁为基准的新计算公式。运用新、旧2种计算公式得到一致的计算结果—新计算表,进一步证实了原计算表中的错误。     

青岛工业与资源灰色关联分析

本文应用灰色关联分析方法研究了青岛地区主导工业对资源的依赖状态及不同工业行业之产出对各类资源投入的反应程度,以灰关联树反映工业经济与资源复合系统之整体及不同层次子系统的耦合关系,定量揭示工业经济效益主导变量与各类资源变量的动态联系,从资源高效利用的角度探讨了青岛工业产业结构调整和优化的方向及区域经济与环境效益相协调的可能途径。