By Heather Skirton
Advent to genetic healthcare -- Foundations in genetic technology -- operating virtually in genetic healthcare -- operating professionally in genetic healthcare -- operating to help households -- operating as an educator for households and execs -- operating as a researcher -- Autosomal-dominant inheritance -- Autosomal recessive inheritance -- X-linked inheritance -- Familial melanoma -- Chromosomal and non-traditional styles of inheritance -- Multifactorial inheritance and customary illnesses
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Additional resources for Applied genetics in healthcare: a handbook for specialist practitioners
Due to variability of expression and reduced penetrance (see Chapter 8), a person who may not appear to have the condition may actually have inherited the mutation and his or her children will be at a 50% risk of developing the condition. Careful physical examination and, if possible, mutation testing are necessary to try to define the risk to offspring in families in which the phenotype may not always be clearly evident. CASE STUDY—LEROY Leroy is a 24-year-old man who is married to Kia. The couple are planning to start a family within the next few years, but Leroy is concerned about his family history of tuberous sclerosis.
At this time, they may have limited support from other sources as many couples choose to keep the pregnancy secret until they are certain of the test outcome. Following the results, couples may wish to have further discussions about the future of the pregnancy if the fetus has been shown to be affected. Continuing support after termination or contact after the birth of the baby is usually appreciated and helps to maintain the links between the practitioner and the client, which is a valuable part of any healthcare service.
I look forward to meeting you both again next week. Practitioner cc Family doctor Applied genetics in healthcare 40 X-linked recessive inheritance pattern When dealing with an X-linked recessive pattern, risks will differ according to the sex of the offspring. In addition, the parent may be an affected male (such as a man with X-linked retinitis pigmentosa) or a carrier female (such as a woman carrying Duchenne muscular dystrophy). If the female parent is a carrier, her daughters have a 50% chance of also being carriers, and her sons have a 50% chance of being affected by the condition.