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

By J. S. Fitzsimmons (Auth.)

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Normal children of an affected parent usually have only normal offspring. 4. There may be considerable variation in the clinical severity of the disease and both sexes may be affected. 34 CLINICAL GENETICS Fig. 5 A. Mother's hands: reduction deformity; B. 1st born infant: same severity of deformity; C. 2nd born infant: much more serious deformity. This demonstrates varying expressivity clearly. Autosomal Recessive Inheritance M o r e than 500 disorders result from this type of inheritance. Whereas some autosomal dominant disease tends to produce clinically striking abnormalities, some recessively inherited disorders may more commonly result in biochemical disturbance.

Our conception of a single gene causing disease in this way stems from the work of a monk, Gregor Mendel, in the 19th century. The conclusions he reached resulted from his experiments with the common garden pea. Although there have been important contributions to our understanding of inheritance since that time, his original conclusions are still of great practical value in the management of patient problems. As has been discussed disease in man thought to be genetic in origin may be divided into three major groups.

18) with that from a normal child it can be seen that group 2 1 consists of three instead of the usual two chromosomes. This is referred to as trisomy 2 1 . For reasons which are not clear having an additional chromosome in this way has serious effects on the development of an individual. Presumably decoding the genetic information is disturbed but exactly in what way is unknown. Theoretically, it is possible to have trisomy of any of the autosomes but N o . 2 1 appears to be particularly vulnerable and there is no satisfactory explanation for this phenomenon.

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