small supernumerary marker chromosomes in genetic diagnostics and counseling

... cytogenetic analysis and interpretation TL drafted the paper and all authors contributed to the finalizing of the manuscript Competing interests The authors declare that they have no competing interests ... the observed clinical symptoms Moreover, it is interesting that the multiple sSMC derive in the present case from chromosomes 6, 8, 11 and 12 Chromosomes and 12 are over-represented in multiple ... article as: Fernández-Toral et al.: Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report Journal...

Ngày tải lên: 11/08/2014, 03:21

... polymorphism, and permits the use of C-band variant chromosomes as marker chromosomes Such marker chromosomes can be used, for example, in gene mapping studies in swine using family investigations ... Within an individual the defined variants for both homologues were constant However, in pairs 13 and 15, the differences in C-band size were not as distinct as in pairs 16, 17, and 18, and in a few ... the variants should be distinct, discontinuous, and inherited Variability in C-band size in porcine chromosomes has been described by several ELANDER -M ANSEN H & ELANDER M (1974), C & HRISTENSEN...

Ngày tải lên: 09/08/2014, 22:23

... sales begin on day Ϫ5 and continue through the last trading day in April of the next year Five-day holding-period returns include transaction costs, interest on uninvested cash, and unsold small- capitalization ... million can be invested in the small- capitalization portfolio on the last trading day of the year and 37 issues, representing approximately 9.8% of the original investment remain unsold trading days ... biases in favor of finding a small- capitalization liquidity premium In 1992, approximately 2.5% of the original investment remains undivested months later, and the actual probability of putting...

Ngày tải lên: 31/10/2014, 12:51

... primary genetic counselor for the patient, identifying risk and introducing genetic testing options that sometimes include referral to formal genetic counseling Genetic counselors and geneticists ... referred individuals and their families Genetic counseling services span the life cycle from preconception counseling to infertility evaluation, prenatal genetic screening and diagnosis, and include ... laboratory genetic counselors are available to counsel the clinician about ordering appropriate genetic testing and assist in interpretation of results, including referral to local genetic counseling...

Ngày tải lên: 15/03/2014, 12:20

Ngày tải lên: 13/03/2016, 12:15

... Breeds and Livelihoods Poultry Genetic Resources and Small Poultry Production Systems in Uganda 11 Record keeping is a management tool for efficiency, decision making and planning In the scavenging ... cocks include the Ugandan short legged, Ugandan brown, Ugandan red and Ugandan white The hens include Ugandan short legged, Ugandan brown, Nsesere (naked-neck), and the Teso chicken There is no information ... entry point and development engine for rural areas through crossbreeding has been suggested (Ssewanyana et al 2003a) The ability to raise them in small land areas interfacing with rapid increasing...

Ngày tải lên: 23/03/2014, 21:20

... single-point methods The gain in power from haplotyping arises in two main ways: analysis of single markers for tests of association using TDT-based methods can only use information from families in ... haplotypes spanning ~9 cM was demonstrated using two -marker approaches When threemarker haplotypes were investigated, however, association with two different combinations of markers, spanning just cM, ... animal models of disease in implicating candidate susceptibility regions in humans The 1q41–42 region is homologous to a locus linked to a mouse model of lupus, and linkage in humans was first demonstrated...

Ngày tải lên: 09/08/2014, 03:24

... studbook using molecular typing (finding nearly 10 % incorrect paternities which result in a lowering of the inbreeding level - FI 5.3 % CONA = table !, the rate of inbreeding still remains relatively ... average within-population inbreeding IS coefficient (measuring the extent of non-random mating) and gives values not different from 0, which means that no appreciable inbreeding is present in the ... number increases to 24 Subdivision exists in this population (as F values show above), and is a result of the mating ST of animals within subpopulations producing an increase in the inbreeding coefficients...

Ngày tải lên: 09/08/2014, 18:21

... using LOKI and for the interpretation of results RE made suggestions for simulating the population structure, helped during programming and integrating of software packages MIX and ASREML and ... (eight) years Missing genotypes in scenario depend on the missing genotypes in scenario 1, i.e all animals having missing genotypes in scenario have missing genotypes in scenario as well In total, the ... of missing genotypes increases Discussion Questions examined in this study came up during the implementation of MAS for Simmental cattle in Germany and Austria Our main interest was to find out...

Ngày tải lên: 14/08/2014, 13:21

... engineering drawing For machining, process planning includes determination of the specific operations required and their sequence, which include tooling, fixturing, and inspection equipment In some cases, ... machines used include conventional machines (e.g., horizontal and vertical milling, drilling, and grinding) and CNC machining centers 9.2.2 The Process Planning Problem Given a part and a set of ... string-1 and string-2 offspring-1 and offspring-2 Determine a cut point randomly from all the positions of a string Each string is divided into two parts, the left side and the right side, according...

Ngày tải lên: 25/12/2013, 19:15

... guarantees and interest subsidies The study focused on three assistance clusters in Northern Ireland (training, marketing and upgrading machinery and equipment), and two in the Republic of Ireland (marketing ... coordinated use of a range of CORFO programs It combines training activities, innovation, infrastructure, technical assistance, and business and finance networking In 2001, the PTI financed nine ... Colombia Small and Medium Enterprise - Monitoring and Evaluation – Peru Mexico – Small and Medium Enterprise – Monitoring and Evaluation Chile – Small and Medium Enterprise – Monitoring and Evaluation...

Ngày tải lên: 14/02/2014, 21:20

... neutrophils, and eccrine glands [13] Cathelicidins kill Gram-positive and Gram-negative bacteria and Trypanosoma cruzi Similar to defensins, cathelicidins participate actively in linking innate and adaptive ... numbers in the locus of b-defensin in chromosome As a result of this deficiency in a-defensins and b-defensins, luminal microbes invade the mucosa and trigger in ammation [104] Concluding remarks Initially ... b-defensins participate in the triggering of an immune response and in the natural process of elimination of activated antigen-presenting cells and termination of the immune response [90] Healing Infection...

Ngày tải lên: 18/02/2014, 06:20

... Reference Plasminogen Complestatin and chloropeptin I Staplabin and SMTPs Thioplabins Stachybotrydial Surfactins and iturins Glucosyldiacylglycerol Plactins Polyamines and carminic acid [43,44,52] ... K1, K2 and K4 of plasminogen, the AH site can bind an internal lysine residue in addition to the C-terminal lysine [30], which is a preferred ligand for the lysine-binding site in K1, K2 and K4 ... heparin, which binds the third EGF domain, inhibits the complex formation; (c) N-terminal region binds to the mutant lacking N-terminal region (DN) and this binding is inhibited by heparin; and...

Ngày tải lên: 06/03/2014, 22:21

... to inhibition of premiRNA processing by siRNAs competing for binding to Dicer, TRBP, and ⁄ or other limiting factors However, since our northern blot analysis did not reveal a concomitant increase ... failure in the processing of miR-430 [23] Interestingly, the MZdicer phenotype also included tail and MMB defects [23] Therefore, it seemed plausible that miRNA processing could be affected by the injection ... rapidly growing knowledge on RNAi and miRNA has revealed many common factors and interconnec2180 Fig Rescue of siRNA-induced abnormalities by coinjection of miR-430b The effects of injecting preprocessed...

Ngày tải lên: 16/03/2014, 06:20

... These findings are cause for concern, indicating that decades of progress in reducing deaths from CAD appear to be stalling Changes in lifestyle factors in the young (increasing obesity and sedentary ... age and sex, in England in 2008 Chronic stable angina 4.1 Defining chronic stable angina The evaluation of epidemiologic data concerning chronic stable angina is more challenging than assessing ... in areas where CAD is in decline, as such CAD will remain the leading cause of death worldwide Myocardial infarction 3.1 Defining myocardial infarction Acute myocardial infarction (AMI) remains...

Ngày tải lên: 17/03/2014, 00:20

... DSBs and the consequent recombination are involved in homology searching in S cerevisiae [5] On the other hand, homologous pairing is independent of recombination in many organisms [5,6] After chromosomes ... operating in this organism [42–44] On the other hand, typical DSB-independent pairing is found in Drosophila and C elegans In these organisms, initiation of pairing and synapsis of homologous chromosomes ... homologous pairing [45], and instead a set of four zinc finger proteins, each specifically binding with one or two pairing centers, are essential for pairing and synapsis, as described above In addition,...

Ngày tải lên: 29/03/2014, 08:20

... acacia stand management Machete - OK for singling but not use for pruning (cannot cut close to main stem, or will damage bark) Pruning saw – suitable for singling and pruning, branches > cm Hand shears ... 32, BV71, BV73 and BV75) Study methods • • Genetic review (Inheritable and expert methods) Thinning trial – – – – • Four thinning treatments (1000, 600, 450 and 300 trees/ha) Randomised Complete ... mangium (north) and A crassicarpa (centre & south) are suitable for sawlog plantation in lowland areas • A.mearnsis and A melanoxylon are suitable for highland areas • The thinning and pruning were...

Ngày tải lên: 21/06/2014, 05:20

... and clinical risk factors indicated the small effects of these markers in discriminating cases and controls Overall, the results provide further evidence and utility for GWAS identified SNPs in ... of breast cancer risk in clinical practice and public health Stat Med 2011, 30:1090-1104 19 Yu KD, Fang Q, Shao ZM: Combining accurate genetic and clinical information in breast cancer risk model ... providing informed consent, each woman was personally interviewed face-to-face by trained interviewers using a pre-tested questionnaire to obtain information on demographic data, menstrual and...

Ngày tải lên: 21/06/2014, 19:20

... for which experiment was used to begin to understand the issued involved in comparing real and virtual meetings 1 Introduction There is substantial interest in the use of Virtual Environments ... behaviour of small groups carrying out a task initially in a virtual and continuing in a real environment Each of the 10 groups involved consisted of three people, unknown to one another beforehand The ... first in the real and then continuing in the virtual This paper describes a study at a certain incomplete stage - nevertheless the results stand in their own right as a study of what happens in...

Ngày tải lên: 28/06/2014, 23:20