Prader-Willi syndrome

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Prader-Willi syndrome is a rare genetic condition that occurs due to the loss of the function of chromosome 15.

Contents

Causes 

Paternal deletion

Paternal deletion refers to the defect of missing some genetic information on the copy of chromosome 15 which is inherited from the father. 

Normally, humans have 46 chromosomes. Prader-Willi syndrome occurs due to a fault in chromosome 15. As we know, chromosomes come in pairs, and we get one copy of each chromosome from each parent. Approximately 70% of Prader-Willi syndrome cases occur due to paternal deletion[1]


Uniparental dismony 

Another cause for Prader-Willi syndrome is unipartenal disomy, where the offspring inherits both copies of chromosome 15 from the mother instead of one copy of chromosome 15 from each parent[2]


Symptoms 

Poor sexual development, overeating, obesity, short stature and distinctive facial features such as almond-shaped eyes, the narrowing of the forehead  and the bridge of the nose and a thin upper lip and a downturned mouth.


Behavioural problems 

Behavioural problems include stubbornness and a manipulative and compulsive behaviour. These behavioural problems are hlighly likely to get worse as the child ages.


References 

  1. NHS choices. Prader-Willi syndrome. 2014 [cited 5/12/17]; Available from: https://www.nhs.uk/conditions/prader-willi-syndrome/
  2. Prader-Willi Syndrome Association USA. PWS basic facts. 2016 [cited 5/12/17]; Available from: https://www.pwsausa.org/basic-facts/
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