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By J. S. Fitzsimmons (Auth.)

ISBN-10: 0433105305

ISBN-13: 9780433105305

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Example text

A similar mechanism underlies other trisomic abnormalities. There is no clear explanation for the occurrence of non-disjunction. It is seen in the male also but seems to happen more frequently in the female, particularly in the animal kingdom. One explanation may be that as the female ages her ovaries are increasingly subject to environmental teratogens. She has all her ova from birth whereas the male continues to make new generations of sperms throughout his reproductive life, which can be very prolonged.

In the remainder s o m e other chromosomal anomalies can be present but the end result is still the same and the babies have the usual features of Down's Syndrome. More recently trisomies of portions of chromosomes, either the short or long arm, have been described and clinical syndromes are associated with their presence. Trisomy of the short arm of N o . 9 chromosome is now well established and the clinical features show the usual combination of mental retardation and various physical anomalies.

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

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