Genetics of Mental Retardation

M. Schmid

• 15 februari 2010
• 9783805592819

Samenvatting:

This remarkable publication focuses on the importance of genetics in mental retardation, investigating the extent to which molecular diagnostic capability and the understanding of genetic causes have improved over recent years. As a result, clinical evaluation and diagnostic laboratory practice are now undergoing an unprecedented period of change.In a single volume, a unique combination of key individuals and world-class clinical, diagnostic and research-based experts share specialized, state-of the-art knowledge in this field. The parents' perspective lies behind chapters dealing with issues such as:- Classification nomenclature- Well-known syndromes- How modern technologies have resulted in newly identified syndromes- How genome architecture can influence disease- Guidelines for clinical evaluation- Valuable database resources for clinical, diagnostic and research departments- Challenges involved in data interpretation and determining clinical relevance- Genetic overlaps with autism and schizophrenia- Processes of health service implementationGenetics of Mental Retardation is an invaluable resource for researchers and students with an active interest in the field. Furthermore, consultants and trainees in clinical genetics and pediatrics, and researchers working in clinical genetics laboratories will benefit from these reviews.