No abstract

Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder representing the most frequent form of syndromic cleft lip and palate. Other characteristic features are pits of the lower lip and hypodontia. The gene shows high penetrance and seems to play an important role in orofacial development determined by the tissues involved and their formation during different periods of craniofacial development. Although most individuals affected with VWS show Mendelian inheritance, one patient with a macroscopic deletion and multiple malformations including two primary features of VWS has been described in the literature, indicating hemizygosity is compatible with the VWS phenotype. We report here the allelic loss of a stable and highly polymorphic microsatellite (D1S205) from region 1q32-41 in one family with VWS. Classical manifestations of the syndrome superimposed on developmental delay in all affected members of the family, the absence of cytogenetic abnormalities, the reproducibility of the null allele with a new set of primers and close linkage of this marker in a total of 15 VWS families provide strong evidence that the first microdeletion involving the gene for VWS has been identified. Assuming 1 Mb of DNA per cM of genetic distance, the upper bound of the deletion size would amount to 4 Mb.

No abstract

Observations of tree canopy structure are routinely used as an indicator of tree condition for the purposes of monitoring tree health, assessing habitat characteristics or evaluating the potential risk of tree failure. Trees are assigned to broad categories of structural condition using largely subjective methods based upon ground-based, visual observations by a surveyor. Such approaches can suffer from a lack of consistency between surveyors; are qualitative in nature and have low precision. In this study, a technique is developed for acquiring, processing and analysing hemispherical images of sessile oak (Quercus petraea (Matt.) Liebl.) tree crowns. We demonstrate that by calculating the fractal dimensions of tree crown images it is possible to define a continuous measurement scale of structural condition and to be able to quantify intra-category variance of tree crown structure. This Page of 28 approach corresponds with traditional categorical methods; however, we recognise that further work is required to precisely define interspecies thresholds. Our study demonstrates that this approach has the potential to form the basis of a new, transferable and objective methodology that can support a wide range of uses in arboriculture, ecology and forest science.