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.     

Toxikologische Bewertung von Rüstungsaltlasten

A method was developed for the risk assessment of a military waste site. The method consists of two steps: 1. evaluation of the exposure through different pathways and 2. derivation of substance-specific tolerable intake levels. In this first part of the paper the quantitative exposure analysis will be discussed. Exposure depends on the conditions at the contaminated site (e.g. soil characteristics), the type of utilisation (residential area, industrial area etc.) and the substance properties. In a specific utilisation scenario, e.g. as residential area, different exposure pathways are contributing to the total contaminant uptake. Because of the properties of nitroaromatic compounds like 2,4,6-trinitrotoluene (good resorption through skin and accumulation in plants) exposure via dermal soil contact and via consumption of plants gains special importance. With these two exposure pathways as examples we explain the quantification of the exposure through different pathways by so-called exposure factors. By comparing the total exposure with tolerable intake levels for the compounds, waste site specific soil pollutant levels can be established (see second part of the paper in UWSF 6/94).     

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.     

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.