Medical genetics : impact and strategy : (genetic disease, birth defects, prenatal diagnosis)
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Genetic diseases and birth defects have a major impact on all levels of health care because of their enormous consequences for the individual and family and because of the high frequency of occurrence. That over 3000 described disorders due to either chromosome aberrations, to single-gene mutations or to many genes acting together and with the environment have been described illustrates the diversity in these diseases. The concern of the medical geneticist is to establish an accurate etiologic diagnosis, to counsel patients and families concerning their risks of occurrence or recurrence and to devise and provide methods of preventing both the effects and ultimately the occurrence of genetic diseases.