Read e-book online Clinical Cardiogenetics PDF

By M. M. A. M. Mannens, H. J. M. Smeets (auth.), H.F. Baars, P.A.F.M. Doevendans, J.J. van der Smagt (eds.)

ISBN-10: 184996470X

ISBN-13: 9781849964708

ISBN-10: 1849964718

ISBN-13: 9781849964715

Clinics for cardiogenetic problems were demonstrated in lots of educational educating hospitals in Europe. In those clinics, cardiologists, scientific and molecular geneticists, genetic nurses, and social employees heavily cooperate to supply optimum deal with people with cardiac illness of possible genetic beginning and their kin. although, the superiority of genetic cardiomyopathies and first electric middle illnesses is satisfactorily excessive, that it really is neither fascinating nor attainable that the deal with this workforce of sufferers and their family members continues to be exclusively limited to a small variety of educational facilities. consequently simple wisdom at the genetic features of those sorts of issues and on what to do with as but asymptomatic at-risk relatives will be thought of to be a prerequisite for all training cardiologists. Many cardiologists haven't been in particular informed in genetics, not to mention in explaining genetics to their sufferers. scientific Cardiogenetics compiles the large quantity of knowledge on hand in one effortless to learn textbook. It doesn't require past professional genetic wisdom and offers a pragmatic medical primer for cardiologists and different physicians serious about the administration of those sufferers. With the ongoing elevate in genetic wisdom, and the increasing percentages to avoid deadly arrhythmias in these participants at excessive probability, a gradual raise in questions relating to genetics from sufferers and their family within the future years will be anticipated. This finished textbook is a worthy software in facing such questions.

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Sample text

Risk estimations are usually based on empirical (observational) data. • These risks are not fixed risks, like in Mendelian disease. New disease cases in a family may indicate a higher genetic load, and therefore a higher risk for relatives. At this point in time the use of predictive genetic testing in multifactorial disease is limited, as usually only a small part of morbidity can be explained by the genetics variants that have thus far been identified for these disorders.

4 Mitosis and Meiosis Two types of cell divisions exist: mitosis and meiosis. Mitosis ensures the equal distribution of the 46 chromosomes over both daughter cells. In order to accomplish this, first the DNA on each chromosome has to be replicated. At cell division each chromosome consists of two identical DNA-chromatids (sister chromatids), held together at a single spot: the centromere. To ensure orderly division, the DNA in the chromosome has to be neatly packaged (a process called condensation).

Apart from ensuring genetic diversity, recombination is also necessary for proper segregation of the homologous chromosomes during meiosis I. During male meiosis the X and Y are able to function as a chromosome pair, thus ensuring proper segregation of sex chromosomes. They can recombine at the tip of their short arms. pairs of autosomes and one pair of sex chromosomes. Abnormalities can be divided in numerical (any deviation from 46 chromosomes) and structural defects (abnormal chromosomes). A whole set of 23 extra chromosomes is called triploidy.

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Clinical Cardiogenetics by M. M. A. M. Mannens, H. J. M. Smeets (auth.), H.F. Baars, P.A.F.M. Doevendans, J.J. van der Smagt (eds.)


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