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.     

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.     

Fluid Mechanics of Biological Surfaces and their Technological Application

 A survey is given on fluid-dynamic effects caused by the structure and properties of biological surfaces. It is demonstrated that the results of investigations aiming at technological applications can also provide insights into biophysical phenomena. Techniques are described both for reducing wall shear stresses and for controlling boundary-layer separation. (a) Wall shear stress reduction was investigated experimentally for various riblet surfaces including a shark skin replica. The latter consists of 800 plastic model scales with compliant anchoring. Hairy surfaces are also considered, and surfaces in which the no-slip condition is modified. Self-cleaning surfaces such as that of lotus leaves represent an interesting option to avoid fluid-dynamic deterioration by the agglomeration of dirt. An example of technological implementation is discussed for riblets in long-range commercial aircraft. (b) Separation control is also an important issue in biology. After a few brief comments on vortex generators, the mechanism of separation control by bird feathers is described in detail. Self-activated movable flaps (=artificial bird feathers) represent a high-lift system enhancing the maximum lift of airfoils by about 20%. This is achieved without perceivable deleterious effects under cruise conditions. Finally, flight experiments on an aircraft with laminar wing and movable flaps are presented.     

Internal circulating fluidized bed incineration system and design algorithm

ＩｎｔｒｏｄｕｃｔｉｏｎＴｈｅｐｒｏｃｅｓｓｏｆｍｕｎｉｃｉｐａｌｓｏｌｉｄｗａｓｔｅ(ＭＳＷ)ｉｓｏｎｅｏｆｔｈｅｍｏｓｔｓｅｒｉｏｕｓｉｓｓｕｅｓｉｎｔｅｒｍｓｏｆｅｎｖｉｒｏｎｍｅｎｔａｌｐｒｏｔｅｃｔｉｏｎ.ＰｒｏｃｅｓｓｉｎｇｏｆＭＳＷｗｉｔｈｏｕｔｆｕｒｔｈｅｒｄｉｓａｓｔｒｏｕｓｃｏｎｔａｍｉｎａｔｉｏｎｃａｎｂｅａｃｈｉｅｖｅｄｏｎｌｙｉｎｍｏｄｅｒｎｉｚｅｄｍｅａｓｕｒｅｓ,ｓｕｃｈａｓｉｎｃｉｎｅｒａｔｉｎｇａｎｄｅｎｅｒｇｙｇｅｎｅｒａｔｉｎｇｃｏｎｃｕｒｒｅｎｔｌｙ(Ｓｈｅｎ…     

Chinese life cycle impact assessment factors

ＩｎｔｒｏｄｕｃｔｉｏｎＬｉｆｅｃｙｃｌｅａｓｓｅｓｓｍｅｎｔ(ＬＣＡ)ｉｓａｎｅｎｖｉｒｏｎｍｅｎｔａｌｍａｎａｇｅｍｅｎｔｔｏｏｌｔｈａｔｉｓｕｓｅｄｔｏｅｘａｍｉｎｅａｎｄｅｖａｌｕａｔｅｔｈｅｅｎｖｉｒｏｎｍｅｎｔａｌｉｍｐａｃｔｓａｓｓｏｃｉａｔｅｄｗｉｔｈｔｈｅｅｘｉｓｔｅｎｃｅｏｆｐｒｏｄｕｃｔｓ(Ｊｅｎｓｅｎ,1998;Ｗｅｉｄｅｍａ,1997;Ｗｅｎｚｅｌ,1997).ＴｈｅｆｏｃｕｓｏｆＬＣＡｉｓｏｎｔｈｅｅｎｔｉｒｅｌｉｆｅｃｙｃｌｅｏｆｔｈｅｐｒｏｄｕｃｔ,ｉ.ｅ.ｆｒｏｍｔｈｅｅｘｔｒａｃｔｉ…     

Prevention of debris flow disasters on Chengdu-Kunming Railway

ＩｎｔｒｏｄｕｃｔｉｏｎＣｈｅｎｇｄｕ ＫｕｎｍｉｎｇＲａｉｌｗａｙＬｉｎｅｉｓｌｏｃａｔｅｄｏｎｔｈｅｍｏｕｎｔａｉｎｒｅｇｉｏｎｏｆｓｏｕｔｈｗｅｓｔｅｒｎＣｈｉｎａ .Ｔｈｅｒｅａｒｅａｌｏｔｏｆｄｅｂｒｉｓｆｌｏｗｇｕｌｌｉｅｓｓｐｒｅａｄｉｎｇｂｅｓｉｄｅｔｈｉｓｒａｉｌｗａｙｌｉｎｅ .Ｏｎｓｕｍｍｅｒ,ｔｈｅｄｅｂｒｉｓｆｌｏｗｏｆｔｅｎｂｕｒｓｔｓａｎｄｔｈｒｅａｔｅｎｓｔｈｅｓａｆｅｔｙｏｆｔｈｅｒａｉｌｗａｙｔｒａｎｓｐｏｒｔａｔｉｏｎ.Ｉｎ 1981,ａｌａｒｇｅ ｓｃａｌｅｄｅｂｒｉｓ…     

Transboundary air pollution balance in the new integrated European environment

Ten out of the 12 new EU members, used to belong to the so-called “former eastern block”, with a post WWII environmental policy radically different from the tendencies followed in Western Europe. The lack of conservation regulations has resulted in a rather harmful industrialization, regarding natural resources and environmental quality. While air pollution transfer is a phenomenon of transboundary level, there is a particular interest in examining the contribution of the new EU member states to the environmental pressure faced by the older member states and vice versa. The current study utilises the official data for almost 20 years published by the European Monitoring and Evaluation Program concerning the transboundary transfer of NO_x and SO₂ in order to analyse the situation and discuss the present and future environmental policy regarding air pollution.     

Uncommon chromosomal mosaicism in chorionic villi

Three cases of unusual chromosomal mosaicism are reported for which the cytogenetic data show inconsistent findings between CVS and AC or fetal tissue, and which cannot be explained simply by non-disjunction. For case 1, in CVS the karyotype was 46,XY, whereas lymphocytes and fibroblasts revealed 69,XXY. DNA fingerprinting indicated one paternal and two maternal chromosome sets, the latter most probably due to omission of maternal meiosis II. For case 2, in CVS mos 46,XX/47,XX,+mar de novo was observed. Amniotic fluid cells had the karyotype 46,XX. The origin of the marker chromosome might be explained by at least two events of unknown order (a somatic chromosome/chromatid deletion and non-disjunction of the homologous chromosome). In case 3 (CVS: mos 46,XY/46,XY,19q+ de novo; amniotic fluid cells, lymphocytes, and fibroblasts: 46,XY), the surplus of chromosome material in 19q+ might be explained on the basis of a somatic translocation. The idea of a chimera is less convincing, as the mosaic finding is restricted to one tissue. Furthermore, there was no hint of a vanishing twin. Hitherto, no case of structural chromosome mosaicism in CVS has been reconfirmed in fetal tissues.     

First-trimester prenatal diagnosis in quintuplets: A practical approach using step-by-step embryo reduction

A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote arid (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.     

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.