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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INHERITANCE PATTERNS 57 Individual autosomes contain a large number of important and essential genes and loss of any one of the autosomes appears to be incompatible with survival. It is possible, however, to lose one X chromosome and survive. Such a situation results in an individual with the karyotype in Fig. 27. Here the problem is too few chromosomes and not too many as in the trisomies. This is usually written XO and referred to as monosomy-X. The clinical features of the patient with this karyotype are well recognised.

Individuals affected in this way tend to grow poorly in utero and in general to have small birth weight. There is no single feature which can be said to be characteristic of a specific chromosomal abnormality and many of them have abnormal physical features in common. Nevertheless, specific clusters of physical abnormalities may combine to produce a characteristic clinical picture such as is seen in Down's Syndrome and some of the other classical chromosomal syndromes. Following the demonstration of trisomy 2 1 in children with Down's Syndrome there have been many other clinical syndromes identified with trisomy of other groups.

They are invariably mentally retarded and many show flexion deformities of the wrists and crossed-over fingers. The facies is very striking and most have severe congenital heart disease. The very severe abnormalities associated with trisomy 13 (Fig. 22) could scarcely be missed but it is important to remember that some patients with these facial characteristics do not have a chromosomal abnormality. The clinical syndrome is collectively referred to as holoprosensephaly and consists of a grossly abnormal face and a poorly developed brain.

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


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