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Neurodevelopmental Disorders Across the LifespanA neuroconstructivist approach$
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Emily K. Farran and Annette Karmiloff-Smith

Print publication date: 2011

Print ISBN-13: 9780199594818

Published to Oxford Scholarship Online: May 2012

DOI: 10.1093/acprof:oso/9780199594818.001.0001

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Genes: The gene expression approach

Genes: The gene expression approach

(p.59) Chapter 3 Genes: The gene expression approach
Neurodevelopmental Disorders Across the Lifespan

Lucy R. Osborne

Oxford University Press

Williams syndrome (WS) is caused by the hemizygous deletion (deletion of one of the two copies) of more than twenty-five genes on the long arm of human chromosome 7. The deletion occurs during meiosis, the swapping of genetic material between chromosomes as the egg or sperm cells are generated, so it can arise in either parent even though they show no symptoms of WS. To fully understand how the complex clinical, cognitive, and behavioural phenotype of WS develops and why it can vary so much between individuals, it is crucial to determine the role of each of the deleted genes throughout development and adulthood, and to map the effects of other genetic and environmental factors. This chapter shows how genes cannot be thought of in terms of static one-to-one mappings between gene function and cognitive outcome, because the temporal and spatial expression of genes changes over developmental time.

Keywords:   Williams syndrome, hemizygous deletion, deleted genes, gene function, cognitive outcome

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