ABC of Clinical Genetics - download pdf or read online

By Helen M. Kingston

ISBN-10: 0727916270

ISBN-13: 9780727916273

This ABC is a concise, hugely illustrated creation to genetic mechanisms occupied with inherited problems. the recent variation has been largely up-to-date with new and revised chapters to surround swift advances within the box. simple genetic thoughts are defined in addition to the applying of recent applied sciences in scientific perform. details on proper sites also are integrated besides steered texts for additional analyzing.

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Additional resources for ABC of Clinical Genetics

Example text

Mosaicism may involve whole chromosomes or single gene mutations and is a postzygotic event that arises in a single cell. Once generated, the genetic change is transmitted to all daughter cells at cell division, creating a second cell line. The process can occur during early embryonic development, or in later fetal or postnatal life. The time at which the mosaicism develops will determine the relative proportions of the two cell lines, and hence the severity of the phenotype caused by the abnormal cell line.

Clinical syndromes have been described due to imbalance of some specific chromosomal segments. This applies particularly to terminal chromosomal deletions. For other rearrangements, the likely effect can only be assessed from reports of similar cases in the literature. 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.

In some infants the only detectable abnormality is lymphoedema of the hands and feet. The most consistent features of the syndrome are short stature and infertility from streak gonads, but neck webbing, broad chest, cubitus valgus, coarctation of the aorta, renal anomalies and visual problems may also occur. Intelligence is usually within the normal range, but a few girls have educational or behavioural problems. Associations with autoimmune thyroiditis, hypertension, obesity and non-insulin dependent diabetes have been reported.

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ABC of Clinical Genetics by Helen M. Kingston


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