ABC of Clinical Genetics by Helen M. Kingston

By Helen M. Kingston

This ABC is a concise, hugely illustrated creation to genetic mechanisms focused on inherited problems. the recent variation has been greatly up-to-date with new and revised chapters to surround speedy advances within the box. uncomplicated genetic thoughts are defined besides the appliance of latest applied sciences in scientific perform. details on suitable sites also are incorporated in addition to urged texts for extra interpreting.

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The term imprinting is used to describe the phenomenon by which certain genes function differently, depending on whether they are maternally or paternally derived. The mechanism of DNA modification involved in imprinting remains to be explained, but it confers a functional change in particular alleles at the time of gametogenesis determined by the sex of the parent. The imprint lasts for one generation and is then removed, so that an appropriate imprint can be re-established in the germ cells of the next generation.

These are termed submicroscopic deletions or microdeletions and probably affect less than 4000 kilobases of DNA. A microdeletion may involve a single gene, or extend over several genes. The term contiguous gene syndrome is applied when several genes are affected, and in these disorders the features present may be determined by the extent of the deletion. The chromosomal location of a microdeletion may be initially identified by the presence of a larger visible cytogenetic deletion in a proportion of cases, as in Prader–Willi and Angelman syndrome, or by finding a chromosomal translocation in an affected individual, as occured in William syndrome.

Theoretically, UPD could also arise by fertilisation of a momosomic gamete with a disomic gamete, resulting in either isodisomy or heterodisomy. Uniparental disomy may have no clinical consequence by itself. It is occasionally detected by the unmasking of a recessive disorder for which only one parent is a carrier when there is isodisomy for the parental chromosome carrying such a mutation. In this rare situation the child would be affected by a recessive disorder for which the other parent is not a carrier.

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