By Helen M. Kingston
This ABC is a concise, hugely illustrated advent to genetic mechanisms interested in inherited issues. the hot version has been widely up to date with new and revised chapters to surround speedy advances within the box. uncomplicated genetic recommendations are defined besides the applying of latest applied sciences in scientific perform. details on proper sites also are integrated besides instructed texts for additional studying.
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Extra resources for ABC of Clinical Genetics, 3rd Edition
A number of recessive genes at different loci cause severe congenital deafness and this affects recurrence risk when two affected individuals have children (see chapter 8). 5 Characteristics of autosomal recessive inheritance • • • • Males and females equally affected Both parents are unaffected carriers Two out of three unaffected siblings are carriers Increased incidence of parental consanguinity in rare disorders Consanguinity Consanguinity increases the risk of a recessive disorder because both parents are more likely to carry the same defective gene, that has been inherited from a common ancestor.
In most conditions, the phenotype in homozygous individuals is more severe than that in heterozygotes, as seen in familial hypercholesterolaemia and achondroplasia. In some disorders, such as Huntington disease and myotonic dystrophy, the homozygous state is not more severe and this probably reflects the mode of action of the underlying gene mutation. When both parents are affected by different autosomal dominant disorders, the chance of a child being unaffected by either condition is again 1 in 4.
With an incidence of 8 per 1000 live births, congenital heart disease is one of the most common birth defects. The aetiology is usually unknown and it is therefore important to identify cases caused by 22q11 deletion. Isolated cardiac defects due to microdeletions of chromosome 22q11 often include outflow tract abnormalities. Deletions have been observed in both sporadic and familial cases and are responsible for about 30% of non-syndromic conotruncal malformations including interrupted aortic arch, truncus arteriosus and tetralogy of Fallot.
ABC of Clinical Genetics, 3rd Edition by Helen M. Kingston