Download PDF by J. S. Fitzsimmons (Auth.): A Handbook of Clinical Genetics

By J. S. Fitzsimmons (Auth.)

ISBN-10: 0433105305

ISBN-13: 9780433105305

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The end result will be the same as if one of the parents had the disease. The affected child will now have the same risk of passing on the abnormal gene as any other affected person. Achondroplasia is a good example of the inheritance of a new mutation; as many as 80 per cent of all achondroplastics have normal parents. Finally, it does occasionally happen that a genetic disorder present in one generation fails to appear in the next but reappears in subsequent generations. This is not a common occurrence and may well only highlight our inability to detect minor clinical effects of the abnormal gene.

If we had more sensitive methods of detecting the effects of genes then it would be possible to demonstrate the effects of a gene whether it produced disease or not. As we shall see this is already possible in some recessively inherited conditions. M o s t genes are located on chromosomes other than the sex chromosome; these are the autosomes and disease resulting from abnormal genes located on these chromosomes is referred to as autosomal disease. The sex chromosomes, however, also contain genes and these may be capable of producing abnormalities.

The science of dermatoglyphics has been established for many years and has been developed by police forces throughout the world. Apprehensive individuals should be told that they are not being fingerprinted in the usual way! Trisomies of other autosomes, although less common, do result in a number of well recognised clinical syndromes and new ones are INHERITANCE PATTERNS Fig. 20 Typical facies and hands of a child with trisomy 18. Poorly developed lower jaw, abnormal ears and a triangular face.

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A Handbook of Clinical Genetics by J. S. Fitzsimmons (Auth.)


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