A to Z of syndromes

A-Z Syndromes: Tay-Sachs disease

An insight into this genetic disorder which carries a poor prognosis and is often fatal
Tay-sachs disease

An insight into this genetic disorder which carries a poor prognosis and is often fatal

Tay-Sachs disease is an autosomal recessive genetic disorder, which results from getting two copies of a defective gene on chromosome 15. Males and females can be carriers and although the disease can affect all races, it was most commonly seen among people of eastern European (Ashkenazi) Jewish descent until a population screening was introduced for Jewish individuals of reproductive age ( Kaback and Desnick 2011 ). Tay-Sachs disease carries a poor prognosis and is often fatal.

Counselling, carrier testing for at-risk family members and the

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