Genomic Imprinting & Uniparental Disomy

Specific Knowledge Objectives
Students should understand:

• The concepts and clinical importance of genetic imprinting and uniparental disomy;
• How novel scientific discoveries can be evaluated in a clinical context and applied appropriately to the care of patients;
• How deletion and uniparental disomy can produce the same phenotype.

READING ASSIGNMENT: T & T, Chap. 4, pp 92-94.

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