Notes

1. Unless a specific work is cited, material contained in this work is common knowledge to human geneticists, and may be found in introductory genetics texts such as Mange and Mange (1999), Vogel and Motulsky (1999), or Lewis (2001).

2. Nosology: knowledge of, and the systematic classification of diseases.

3. Genetic conditions italicized in the text are summarized in Table 1 of the companion entry Genetic Disease II.

4. There has been a trend in recent years to omit the possessive case when an eponym is associated with a syndrome; Down's has become Down syndrome. This convention is followed here. Names for certain diseases, for example Alzheimer's disease, still feature the possessive case.

5. Leridon (1977, table 4.20, and pp. 76-81), and Carr and Gedeon (1977).

6. While some defects are life threatening, others, such as male pattern baldness or colorblindness, are more benign.

7. Epigenetics: study of the causes and course of development, especially those mechanisms that affect the timing and interaction of gene expression and tissue induction (Mai et al., in press).

8. Several other, less frequent mutations, includung deletions and insertions, also cause transformational folding of the prion protein, and result in clinically similar—but not identical—phenotypes.

9. Whole organism cloning should not be confused with DNA cloning, which is the amplification of a segment of DNA (the clone) after in vitro insertion of the clone into a suitable DNA vector, such as a modified virus.

10. This date and time has become an understandably famous landmark among medical geneticists, because of the historical importance of the treatment.

11. Other in vitro techniques, such as fetal cell sorting, offer this same promise.

12. Similarly, the incidences of congenital hearing loss, congenital blindness, and juvenile-onset myopia have markedly increased in urban populations for presumed similar reasons (although myopia has both a genetic and a large environmental component).

13. Iatrogenic: an effect, usually negative and unintended, introduced directly through the treatment of a healer.

14. Directed evolution is also known by the labels anthropogenic selection, directed selection and directed molecular evolution.

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