The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q.

Triphalangeal thumb is a developmental anomaly, sometimes dominantly transmitted, characterized by a long, finger-like thumb with three phalanges instead of two. The underlying genetic defect is unknown, but presumably involves genes that regulate the differentiation of the developing forelimb. In two large kindreds with triphalangeal thumb, evidence for linkage to the long arm of chromosome 7 was obtained with a maximum lod score of 12.61. Multipoint linkage and haplotype analysis placed the gene close to the telomere of the long arm. To our knowledge this is the first time that a human gene involved solely in the pathologic morphogenesis of the hand and feet has been localized.

Manufacturing a Micro-model with Integrated Fibre Optic Pressure Sensors.

The measurement of fluid pressure inside pores is a major challenge in experimental studies of two-phase flow in porous media. In this paper, we describe the manufacturing procedure of a micro-model with integrated fibre optic pressure sensors. They have a circular measurement window with a diameter of 260  µ m , which enables the measurement of pressure at the pore scale. As a porous medium, we used a PDMS micro-model with known physical and surface properties. A given pore geometry was produced following a procedure we had developed earlier. We explain the technology behind fibre optic pressure sensors and the procedure for integrating these sensors into a micro-model and demonstrate their utility for the measurement of pore pressure under transient two-phase flow conditions. Finally, we present and analyse results of single and two-phase flow experiments performed in the micro-model and discuss the link between small-scale fast pressure changes with pore-scale events.