Download ABC of Clinical Genetics, 3rd Edition by Helen M. Kingston PDF

By Helen M. Kingston

This ABC is a concise, hugely illustrated creation to genetic mechanisms all in favour of inherited problems. the hot variation has been largely up to date with new and revised chapters to surround swift advances within the box. easy genetic thoughts are defined in addition to the appliance of recent applied sciences in scientific perform. details on correct sites also are integrated in addition to prompt texts for additional examining.

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Extra resources for ABC of Clinical Genetics, 3rd Edition

Sample text

9 Twin pregnancies complicate the estimation of recurrence risk. In monozygous twins, both will be either affected or unaffected. The risk that both will be affected is 25%, as with singleton pregnancies.

In 1991 the discovery of unstable trinucleotide repeat expansion mutations identified a novel genetic mechanism underlying a number of important disorders. Several genes are known to contain regions of trinucleotide repeats. The number of repeats varies from person to person in the general population, but within the normal range these repeats are stably transmitted. When the number of repeats is increased beyond the normal range, this region becomes unstable with a tendency to increase in size when transmitted to offspring.

Premutations do not cause disease but are unstable and likely to expand further when transmitted to offspring. Once the repeat reaches a certain size it becomes a full mutation and disease will occur. Since the age at onset and severity of the disease correlate with the size of the expansion, this phenomenon accounts for the clinical anticipation that is seen in this group of conditions, where age at onset decreases in successive generations of a family. There is a sex bias in the transmission of the most severe forms of some of these disorders, with maternal transmission of congenital myotonic dystrophy and fragile X syndrome, but paternal transmission of juvenile Huntington disease.

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