ILOs

• revise pedigree drawing and interpretation
• understand autosomal dominant inheritance, new mutations and modifier gene variants
• understand the concepts of variable expression, incomplete penetrance and gonadal mosaicism
• understand autosomal recessive inheritance including pseudo-dominant inheritance
• learn about X-linked recessive and X-linked dominant inheritance
• understand pseudo-autosomal inheritance

Typical Mendelian Inheritance

• Here’s a pedigree…
• An extremely difficult clinical case
• What other aspects do we need to consider with AD conditions?
• Outline other examples of AD conditions
• Here’s a diagram showing AR inheritance
• Pedigree of family with sickle cell disease
• What are the clues to look for with AR inheritance?
• Outline some examples of AR conditions

Questions

• Question 1: Autosomal Recessive
• Question 2: Autosomal Recessive