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

By J. S. Fitzsimmons (Auth.)

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26 Non-disjunction. Behaviour of chromosomes N o . 21 and 22 at meiosis. The cell lacking chromosome N o . 21 does not survive. born to mothers of normal reproductive age. This is because fewer women over the age of 4 0 have babies and in the younger mothers it is still non-disjunction or similar cause of unequal chromosome distribution which is most likely to result in trisomy 2 1 . Approximately 92 per cent of all children with this syndrome have this type of chromosomal abnormality. 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.

Unfortunately, in most recessive diseases it is only possible to identify the asymptomatic carriers when they produce an affected child. In the majority there is no biochemical test which will clearly demonstrate the presence of the abnormal gene although hopefully with further research such tests will be available for some of the more common disorders. ' As they are very common conditions they should provide an opportunity for population screening and factual genetic counselling. Both are examples of a group of conditions called the haemoglobinopathies in which, as a consequence of an abnormal haemoglobin, there is an increased tendency to red cell breakdown and hence anaemia.

There may be a single transverse palmar crease instead of the usual two. This is referred to as a Simian crease. In addition there may be a reduction in the number of dermal ridges on the fingers and toes. 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.

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