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By Peter S. Harper

Re-creation of a name with long-standing good fortune in scientific genetics.


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Berlin: Springer [still the most detailed and rigorous textbook on the scientific basis of human genetics; a new edition (Speicher MR, Antonorakis SE, Motulsky AG, 2010)]. Genetic counselling Baker D, Schuette J, Uhlmann W (eds) (1998). A Guide to Genetic Counselling. New York: Wiley. Bennett RL (1999). Practical Guide to the Genetic Family History. Chichester: Wiley–Blackwell. ) (1994). Genetic Counselling: Practice and Principles. London: Routledge. Clarke A (1997). The process of genetic counselling: beyond non-directiveness.

Uhlmann W, Schuette J, Yashar B (2009). A Guide to Genetic Counseling. New York: Wiley–Blackwell. ) (2003). Nature Encyclopedia of the Human Genome. London: Nature Publishing Group [online version now forms part of Encyclopedia of Life Sciences (see below)]. Firth HV, Hurst JA (2005). Oxford Desk Reference: Clinical Genetics. Oxford: Oxford University Press. Gardner RJM, Sutherland GR (2003). Chromosome Abnormalities and Genetic Counselling. Oxford: Oxford University Press. King RA, Rotter JI, Motulsky AG (2002).

G. osteogenesis imperfecta, achondroplasia), it is well documented but infrequent. For practical purposes, it is probably wise to regard a recurrence risk of around 1 per cent to be likely for any apparent new dominant mutation, unless a more specific estimate is available. Gonadal mosaicism must also be considered as an alternative to autosomal recessive inheritance where two affected offspring have been born to healthy parents, especially where the disorder is normally dominant in inheritance.

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