A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure

Balanced complex chromosomal rearrangements are very rare events in the human population. Translocations involving three or more chromosomes frequently lead to a severe reproductive impairment secondary to meiotic disturbance in males and to chromosomal imbalance in gametes of females. We report a new familial case of complex chromosome anomaly involving chromosomes 13, 14 and 22. Cytogenetic investigations showed a complex chromosomal chromosome rearrangement involving: (i) a Robertsonian translocation between chromosomes 13 and 14; and (ii) a reciprocal translocation between the long arms of chromosome 14 and the long arm of chromosome 22. The aetiology of the translocation was characterized by conventional fluorescence in‐situ hybridization (FISH) studies and routine R‐ and G‐banding (RTBG and GBTG) combined with α and β satellite centromeric FISH probes. Predicted configuration of the hexavalent at pachytene stage of meiosis was used to consider the modes of segregation; only two configurations resulted in a normal or balanced gamete karyotype. Reproductive management and genetic counselling are discusse

Engineering Support of Microgravity Life Science Research: Development of an Avian Development Facility

The Avian Development Facility (ADF) is designed to provide a 'window' for the study of embryogenesis in space. It allows researchers to determine and then to mitigate or nullify the forces of altered gravity upon embryos when leaving and re-entering the Earth's gravity. The ADF design will allow investigations to begin their incubation after their experiments have achieved orbit, and shut down the experiment and fix specimens before leaving orbit. In effect, the ADF makes every attempt to minimize launch and re-entry effects in order to isolate and preserve the effects of the experimental variable(s) of the space environment

The Norm Implementation Problem in Normative Multi-Agent Systems

Abstract. The norm implementation problem consists in how to see to it that the agents in a system comply with the norms specified for that system by the system designer. It is part of the more general problem of how to synthesize or create norms for multi-agent systems, by, for example, highlighting the choice between regimentation and enforcement, or the punishment associated with a norm violation. In this paper we discuss how various ways to implement norms in a multi-agent system can be distinguished in a formal game-theoretic framework. In particular, we show how different types of norm implementation can all be uniformly specified and verified as types of transformations of extensive games. We introduce the notion of retarded preconditions to implement norms, and we illustrate the framework and the various ways to implement norms in the blocks world environment