ABC of Clinical Genetics by Helen M. Kingston PDF

By Helen M. Kingston

ISBN-10: 0727916270

ISBN-13: 9780727916273

This ABC is a concise, hugely illustrated advent to genetic mechanisms interested by inherited problems. the recent variation has been widely up-to-date with new and revised chapters to surround speedy advances within the box. easy genetic innovations are defined in addition to the applying of latest applied sciences in scientific perform. info on appropriate sites also are incorporated in addition to prompt texts for extra analyzing.

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Prediction is never precise, since reciprocal translocations in unrelated individuals are unlikely to be identical at the molecular level and other factors may influence expression of the chromosomal imbalance. The risk of an unbalanced karyotype occurring in offspring depends on the individual translocation and can also be difficult to determine. An overall risk of 5–10% is often quoted. After the birth of one affected child, the recurrence risk is generally higher (5–30%). The risk of a liveborn affected child is less for families ascertained through a history of recurrent pregnancy loss where there have been no liveborn affected infants.

The disorder is not transmitted by family members who are unaffected themselves. Estimation of risk is therefore apparently simple, but in practice several factors may cause difficulties in counselling families. 1 Pedigree demonstrating autosomal dominant inheritance Parents Aa Late onset disorders Dominant disorders may have a late or variable age of onset of signs and symptoms. People who inherit the defective gene will be destined to become affected, but may remain asymptomatic well into adult life.

Intelligence is usually within the normal range but may be about 10 points lower than in siblings and learning difficulties may require additional input at school. Behavioural problems can include hyperactivity, distractability and impulsiveness. Although initially found to be more prevalent among inmates of high security institutions, the syndrome is much less strongly associated with aggressive behaviour than previously thought although there is an increase in the risk of social maladjustment.

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ABC of Clinical Genetics by Helen M. Kingston

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