24. Tay-Sachs disease and preimplantation genetic diagnosis

  title={24. Tay-Sachs disease and preimplantation genetic diagnosis},
  author={Christoph Hansis and James A. Grifo},
Publisher Summary This chapter discusses the Tay-Sachs disease (TSD) and Preimplantation Genetic Diagnosis in detail. TSD is an autosomal recessive progressive neurodegenerative disorder which is characterized by a deficiency of the enzyme Hexosaminidase A. Clinical features includes developmental retardation, paralysis, dementia, and blindness. The diagnosis of TSD is based on both DNA (deoxyribonucleic acid) and enzymatic testing, including prenatal testing. The most severe problem of… CONTINUE READING

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