A general overview of Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic condition that was first described in 1956 by Prader and colleagues. The condition is characterised by a recognisable pattern of dysmorphic features as well as major neurological, developmental, behavioural and psychiatric differences.^1-5

It has been highlighted that PWS should be referred to as a genomic condition rather than a genetic condition because of its genomic imprinting feature.^1,4

The genotype of PWS

Each cell in the human body contains genetic material inside its nucleus in the form of chromosomes (the genotype); 23 pairs of chromosomes composed of two strands of DNA are linked together to form a double helix, with one chromosome from each pair being inherited from each parent.