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Marfan's syndrome is an autosomal dominant disorder of connective tissues. What is inherited is a defect in the chromosome 15q21, that codes the FBN1 gene. This gene is necessary for proper synthesis if a type of connective tissue called fibrillin. Patients have skeletal abnormalities, eye changes, cardiovascular problems, and a marked tendency to bruise.

Tay-Sachs disease is a lysosomal storage disorder, characterised by ganglioside accumulation. This is due to an enzyme deficiency in the lysosome that cannot digest the gangliosides and hence leads to progressive accumulation.

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Q: Describe 2 genetic disorders and discuss how they are inherited?
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