A continuous array of overlapping clones covering the entire human chromosome 21q was constructed from human yeast artificial chromosome libraries using sequence-tagged sites as landmarks specifically detected by polymerase chain reaction. The yeast artificial chromosome contiguous unit starts with pericentromeric and ends with subtelomeric loci of 21q. The resulting order of sequence-tagged sites is consistent with other physical and genetic mapping data. This set of overlapping clones will promote our knowledge of the structure of this chromosome and the function of its genes.

For pregnancies with a FF too low to receive a result on standard NIPT, the FFBR algorithm identified a subset of cases at increased risk for trisomy 13, trisomy 18 or triploidy. For the remainder of cases, the risk of a fetal chromosomal abnormality was unchanged from that expected based on MA and GA. © 2018 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

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Now that the complete sequences for human chromosome 21 and the orthologous mouse genomic regions are known, reasonably complete, conserved, protein-coding gene catalogues are also available. The central issue now facing Down's syndrome researchers is the correlation of increased expression of specific, normal, chromosome 21 genes with the development of specific deficits in learning and memory. Because of the number of candidate genes involved, the number of alternative splice variants of individual genes and the number of pathways in which these genes function, a pathway analysis approach will be critical to success. Here, three examples, both gene specific and pathway related, that would benefit from pathway analysis are discussed: (1) the potential roles of eight chromosome 21 proteins in RNA processing pathways; (2) the chromosome 21 protein intersectin 1 and its domain composition, alternative splicing, protein interactions and functions; and (3) the interactions of ten chromosome 21 proteins with components of the mitogen-activated protein kinase and the calcineurin signalling pathways. A productive approach to developing gene-phenotype correlations in Down's syndrome will make use of known and predicted functions and interactions of chromosome 21 genes to predict pathways that may be perturbed by their increased levels of expression. Investigations may then be targeted in animal models to specific interactions, intermediate steps or end-points of such pathways and the downstream - perhaps amplified - consequences of gene dosage directly assessed. Once pathway perturbations have been identified, the potential for rational design of therapeutics becomes practical.

Cephalopods are key species of the eastern Arctic marine food web, both as prey and predator. Their presence in the diets of Arctic fish, birds and mammals illustrates their trophic importance. There has been considerable research on cephalopods (primarily Gonatus fabricii) from the north Atlantic and the west side of Greenland, where they are considered a potential fishery and are taken as a by-catch. By contrast, data on the biogeography of Arctic cephalopods are still incomplete. This study integrates most known locations of Arctic cephalopods in an attempt to locate potential areas of interest for cephalopods, and the predators that feed on them. International and national databases, museum collections, government reports, published articles and personal communications were used to develop distribution maps. Species common to the Canadian Arctic include: G. fabricii, Rossia moelleri, R. palpebrosa and Bathypolypus arcticus. Cirroteuthis muelleri is abundant in the waters off Alaska, Davis Strait and Baffin Bay. Although distribution data are still incomplete, groupings of cephalopods were found in some areas that may be correlated with oceanographic variables. Understanding species distributions and their interactions within the ecosystem is important to the study of a warming Arctic Ocean and the selection of marine protected areas.

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