Prenatal diagnosis and fetal pathology of partial trisomy 20p–monosomy 4p resulting from paternal translocation

Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 2Op and monosomy 4p. In addition, the amniotic fluid alpha-fetoprotein (AFP) became increasingly elevated with gestational age. The pregnancy was terminated at 25 weeks. The fetus presented with typical facial dysmorphic features, unilateral cleft lip and palate, severe renal hypoplasia, consistent with the 4p- (Wolf-Hirschhorn) syndrome.     

An approach to preimplantation diagnosis of β-thalassaemia

Using the polymerase chain reaction (PCR), it was possible to amplify a single copy fragment of the β-globin gene from 2–32 human embryonic cells obtained from arrested preimplantation embryos. For the detection of β-thalassaemia mutations, allele specific priming of the PCR using nested primers was employed using approximately 10 pg of DN A from individuals known to carry these mutations. This approach was successful in detecting the presence or absence of five Asian Indian β-thalassaemia mutations that were selected for this study. In spite of meticulous precautions against contamination, false-positive amplification was observed, a problem that will have to be overcome before this approach can be used in clinical practice.     

Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin

Prenatal diagnosis of 5p deletion syndrome, or cri du chat, following an abnormally low measurement of a screening of serum human chorionic gonadotrophin (hCG), is reported. Karyotyping following amniocentesis revealed a terminal deletion in the short arm of one chromosome 5. The pregnancy was electively terminated. 5p deletion syndrome has been described with abnormally high hCG levels and normal hCG levels. This is the first report of its association with abnormally low levels. The association between chromosomal abnormalities and hCG is discussed. Copyright © 2003 John Wiley & Sons, Ltd.     

Environmental Impact Assessment in Victoria: Australian Discretion Rules EA!

Victoria enacted EIA legislation in 1978, before any other state in Australia. The current EIA system, which is administered by the state government, is based upon non-mandatory guidelines which are far more comprehensive than the provisions of the law they elaborate. As it has matured, Victoria's EIA system has developed requirements for the consideration of alternatives, screening, scoping (with project-specific outlines), EIA report-quality checks, proponent response to public comment and the preparation of a ministerial assessment report containing recommendations. The use of consultative committees to advise on scoping and EIA report preparation is one of several public participation provisions. EIA system evaluation criteria are advanced and used to help in reviewing the largely discretionary Victorian system, elements of which could serve as an example to other jurisdictions with incomplete EIA legislative requirements, such as the U.K.     

Ivemark syndrome with agenesis of the corpus callosum: a case report with a review of the literature

Asplenia associated with situs ambiguus, symmetric liver, bilateral trilobulated lungs, and a complex heart defect was diagnosed on autopsy in a 14-day-old infant. Furthermore, examination of the brain displayed agenesis of the corpus callosum (ACC) with pachygyria and hydrocephalus. The characteristic association of asplenia with visceroatrial heterotaxia is traditionally named after the Swedish pediatrician, Ivemark. Although exceptional, association of Ivemark syndrome with callosal agenesis has been reported recently. The concept of ‘developmental fields’ describes morphogenetically reactive units of the embryo determining and controlling the development of complex structures in a hierarchical manner. Lateralization defects such as situs inversus, asplenia or polysplenia due to defective left–right axis development, as well as decussation defects such as ACC, are considered as defects of the primary developmental field. Therefore, additional callosal agenesis in Ivemark syndrome may be a coherent and synchronic defect in the primary developmental field rather than a causally independent malformation. Copyright © 2002 John Wiley & Sons, Ltd.     

Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH

Balanced reciprocal translocation is one of the known causes of recurrent spontaneous abortions. Cytogenetic studies of unbalanced miscarriages are difficult due to the growth failure of early loss and usually macerated abortions. We present a molecular study of an abortion in which the father carries a balanced reciprocal translocation t(2;17)(q32.1;q24.3) using QF-PCR and CGH techniques. DNA analysis showed the presence of a trisomy 2 due to a 3:1 interchange segregation. Recombinant events could also be investigated by comparing DNA samples from the family. We propose QF-PCR in addition to CGH as an efficient diagnostic method to improve our knowledge of unbalanced offspring in balanced translocation carriers. Copyright © 2005 John Wiley & Sons, Ltd.     

The Effect of Hydroxyl Radical Generation on Free-Radical Activation of TMP Fibers

The purpose of this work was to study the mechanisms involved in free radical activation of thermal mechanical pulp (TMP) fibers with the ultimate goal of developing methods for bonding wood fiber without the use of traditional adhesives. The generation of hydroxyl radicals in a mediated Fenton system was studied using electron spin resonance (ESR) spin-trapping techniques and indirectly through chemiluminescence measurement. The activation of TMP fibers was also evaluated by ESR measurement of free phenoxy radical generation on solid fibers. The results indicate that low molecular weight chelators can improve Fenton reactions, thus in turn stimulating the free radical activation of TMP fibers. However, it was also shown that excessive and prolonged free radical treatment may cause the destruction of fiber phenoxy radicals. In conclusion, this study demonstrates the potential for application, but also the complexity of free radical chemistry in biological materials, especially with regard to the chelation of transition metals and the interaction between free radicals.     

Nature conservation with reference to the state of Alagoas,Brazil

Summary This paper examines some problems concerning the present global environmental status, and looks at the principal concepts, aims and objectives of nature conservation. Reference is made to the State of Alagoas in Brazil in relation to its leading environmental problems and the government's efforts to address the situation. The main stumbling-blocks to conservation achievements in Alagoas are also explored.     

Darwin's Fox: A Distinct Endangered Species in a Vanishing Habitat

The temperate rain forest of Chiloé Island, Chile, is inhabited by an endemic fox ( Dusicyon fulvipes ) first described by Charles Darwin and now designated Darwin's fox. Despite morphological differences, Darwin's fox has been considered only an insular subspecies of the mainland chilla fox ( D. griseus ). This follows the assumption that the island population, with an estimated population of less than 500, has been separated from the mainland chilla fox for only about 15,000 years and may have received occasional immigrants from the mainland. Consequently, this island population has not been protected as endangered or bred in captivity. Recently, a population of Darwin's fox was discovered on the Chilean mainland 600 km north of Chiloé Island. This population exists in sympatry with chilla and possibly culpeo ( D. culpaeus ) foxes, which suggests that Darwin's fox may be reproductively isolated. To clarify the phylogenetic position of Darwin's fox, we analyzed 344 bp of mitochondrial DNA control-region sequence of the three species of Chilean foxes. Darwin's foxes from the island and mainland populations compose a monophyletic group distinct from the two other Chilean fox species. This indicates that Darwin's fox was probably an early inhabitant of central Chile, and that its present distribution on the mainland may be a relict of a once much wider distribution. Our results highlight the ability of molecular genetic techniques to uncover historical relationships masked by recent events, such as local extinctions. The "rediscovery" of Darwin's fox as a distinct species implies that greater significance should be given to the protection of this species and its unique habitat and to documenting the extent of its mainland distribution.