Learning Objectives

• Interpret a karyotype and be able to accurately describe it and its associated condition.
• Explain the principles of non-disjunction and translocations during meiosis.
• Understand the clinical features associated with common karyotype disorders and apply them correctly

Karyotype Abnormalities

• Karyotype Nomenclature
• what are acquired vs constitutional chromosome abnormalities?
• what are the 5 main causes of karyotype abnormalities?
• what is aneuploidy vs polyploidy?
• what % of early miscarriages show an abnormal karyotype?
• what is parent-of-origin imprinting?
• what is uniparental disomy?
• how can you tell how early an error occurred in an mosaic?
• what technology is used to detect many micro-deletions?

LR Karyotype Diseases

• why does ectodermal dysplasia present with patterned skin?
• what defect causes Hereditary Motor and Sensory Neuropathy?
• what defect causes Charcot-Marie Tooth disease?
• what defect causes William's Syndrome? consequence?