Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Genetic variation in natural honeybee populations,<Emphasis Type="Italic"> Apis mellifera capensis</Emphasis>

Genetic variation in honeybee, Apis mellifera, populations can be considerably influenced by breeding and commercial introductions, especially in areas with abundant beekeeping. However, in southern Africa apiculture is based on the capture of wild swarms, and queen rearing is virtually absent. Moreover, the introduction of European subspecies constantly failed in the Cape region. We therefore hypothesize a low human impact on genetic variation in populations of Cape honeybees, Apis mellifera capensis. A novel solution to studying genetic variation in honeybee populations based on thelytokous worker reproduction is applied to test this hypothesis. Environmental effects on metrical morphological characters of the phenotype are separated to obtain a genetic residual component. The genetic residuals are then re-calculated as coefficients of genetic variation. Characters measured included hair length on the abdomen, width and length of wax plate, and three wing angles. The data show for the first time that genetic variation in Cape honeybee populations is independent of beekeeping density and probably reflects naturally occurring processes such as gene flow due to topographic and climatic variation on a microscale.     

MR imaging of the fetal musculoskeletal system

Magnetic resonance imaging (MRI) appears to be increasingly used, in addition to standard ultrasonography for the diagnosis of abnormalities in utero. Previous studies have recently drawn attention to the technical refinement of MRI to visualize the fetal bones and muscles. Beyond commonly used T2-weighted MRI, echoplanar, thick-slab T2-weighted and dynamic sequences, and three-dimensional MRI techniques, are about to provide new imaging insights into the normal and the pathological musculoskeletal system of the fetus. This review emphasizes the potential significance of MRI in the visualization of the fetal musculoskeletal system. © 2012 John Wiley & Sons, Ltd.     

Turner syndrome-omphalocele association: Incidence,karyotype, phenotype and fetal outcome

Objective

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.

Method

Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.

Results

680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.

Conclusion

TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.     

A contact sex pheromone component of the emerald ash borer Agrilus planipennis Fairmaire (Coleoptera: Buprestidae)

Analyses of the elytral hydrocarbons from male and female emerald ash borer, Agrilus planipennis Fairmaire, that were freshly emerged vs. sexually mature (>10 days old) revealed a female-specific compound, 9-methyl-pentacosane (9-Me-C₂₅), only present in sexually mature females. This material was synthesized by the Wittig reaction of 2-decanone with (n-hexadecyl)-triphenylphosphonium bromide followed by catalytic reduction to yield racemic 9-Me C₂₅, which matched the natural compound by gas chromatography/mass spectrometry (retention time and EI mass spectrum). In field bioassays with freeze-killed sexually mature A. planipennis females, feral males spent significantly more time in contact and attempting copulation with unwashed females than with females that had been washed in n-hexane to remove the cuticular lipids. Hexane-washed females to which 9-Me-C₂₅ had been reapplied elicited similar contact time and percentage of time attempting copulation as unwashed females, indicating that 9-methyl-pentacosane is a contact sex pheromone component of A. planipennis. This is the first contact sex pheromone identified in the Buprestidae.     

Towards a climate change adaptation strategy for coffee communities and ecosystems in the Sierra Madre de Chiapas, Mexico

The mountain chain of the Sierra Madre de Chiapas in southern Mexico is globally significant for its biodiversity and is one of the most important coffee production areas of Mexico. It provides water for several municipalities and its biosphere reserves are important tourist attractions. Much of the forest cover outside the core protected areas is in fact coffee grown under traditional forest shade. Unless this (agro)forest cover can be sustained, the biodiversity of the Sierra Madre and the environmental services it provides are at risk. We analyzed the threats to livelihoods and environment from climate change through crop suitability modeling based on downscaled climate scenarios for the period 2040 to 2069 (referred to as 2050s) and developed adaptation options through an expert workshop. Significant areas of forest and occasionally coffee are destroyed every year by wildfires, and this problem is bound to increase in a hotter and drier future climate. Widespread landslides and inundations, including on coffee farms, have recently been caused by hurricanes whose intensity is predicted to increase. A hotter climate with more irregular rainfall will be less favorable to the production of quality coffee and lower profitability may compel farmers to abandon shade coffee and expand other land uses of less biodiversity value, probably at the expense of forest. A comprehensive strategy to sustain the biodiversity, ecosystem services and livelihoods of the Sierra Madre in the face of climate change should include the promotion of biodiversity friendly coffee growing and processing practices including complex shade which can offer some hurricane protection and product diversification; payments for forest conservation and restoration from existing government programs complemented by private initiatives; diversification of income sources to mitigate risks associated with unstable environmental conditions and coffee markets; integrated fire management; development of markets that reward sustainable land use practices and forest conservation; crop insurance programs that are accessible to smallholders; and the strengthening of local capacity for adaptive resource management.     

Integrated assessment of future CAP policies: land use changes,spatial patterns and targeting

The recent and upcoming reforms of the Common Agricultural Policies (CAPs) aim at strengthening the multifunctional role of agriculture, acknowledging the differences in economic, environmental and social potentials within European regions. This paper presents results from an integrated assessment of existing and future policies within the framework set up in the FP6 EU project MEA-Scope. Spatial explicit procedures allow for the MEA-Scope modelling tools to provide information related to regional, environmental and socio-economics settings. The impact of different policy scenarios on structural change, land abandonment and cropping pattern of typical farms has been assessed based on linked agent-based (ABM) and Linear Programming (LP) models at regional and farm scale for two study areas. For the German case study area Ostprignitz-Ruppin (OPR), the issue of policy targeting has been addressed by relating non-commodity outputs (NCOs) to soil quality and protection status. For the Italian case study area (Mugello), changes in landscape patterns in terms of increased fragmentation or homogeneity as affected by changes in agricultural intensity have been analysed using semivariance analysis. The spatial explicit approach highlighted the relevance of case study research in order to identifying response structures and explaining policy implementation patterns.     

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.     

Sonographic diagnosis of cystic adenomatoid malformation in-utero

Routine ultrasound examination at 30 weeks gestation revealed an intrapulmonary cystic mass in an otherwise normal fetus. Following delivery at term, the diagnosis of congenital cystic adenomatoid malformation of the right lung was confirmed, and an elective right middle lobectomy successfully performed at nine days of age.