By J. S. Fitzsimmons (Auth.)
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Extra resources for A Handbook of Clinical Genetics
28 Turner's Syndrome. The neck webbing and abnormal face is very obvious. Some girls have more normal appearance. common finding. However, there is a substantial loss of fetuses with this abnormality so that at birth the incidence is 1 per 2 5 0 0 newborn females. There is no obvious explanation for this occurrence. In some malformations the placenta is also abnormal and incapable of sustaining a pregnancy to term. However, this is not always the case and we do not know why some very grossly abnormal babies are retained in the uterus while others are rejected.
Of the other possible outcomes to a pregnancy it can be seen in 2 out of 3 there is a risk of a child being a carrier like the parents. e. e. did not inherit the abnormal gene. The risk of an affected offspring, therefore, is 2 5 per cent or 1 in 4 and the risk of having a child who is a 'carrier' like the parents is 2 : 3 . Patients with cystic fibrosis do not normally reproduce but if we were to examine the pedigrees of families with other types of recessive disease we would see that affected persons normally do not have affected offspring.
Minor differences in genes are common and allow for the wide diversity of many human characteristics. The eventual expression of this gene action will cause a different physical, biochemical and physiological make-up in each individual. This is referred to as a person's phenotype which is the result of the interaction between his genetic make-up, his genotype, and the environment. It is important to stress that a defective gene in one chromosome will produce an entirely different effect from a faulty gene in another chromosome.