Tuesday, April 18, 2017

Prader-Willi syndrome and Angelman syndrome mnemonic

Hello! Let me start with the mnemonic and then I'll explain these syndromes in detail.

Prader willi syndrome mnemonic:
Pappas Region Absent or Deleted ERroneously
Weight Increased
Learning disabilities
Low muscle tone
Infertility (Due to hypogonadism)
Short stature

Angelman syndrome mnemonic:
Angels fly, so they can't walk: Ataxia
Angels don't talk to us: Speech impairment
Angels don't cry: Frequent laughter/smiling; apparent happy demeanor
These angels don't have wings, so they flap their hands to fly.

M: Microcephaly
A: Attention span short
N: Neurodevelopmental disorder
S: Seizures
MAN: Moms region Absent / Nil

A small interstitial deletion between 15q11 and 15q13 can result in two completely different clinical syndromes depending upon the parental origin of the chromosome. A paternally derived chromosome 15 with this deletion results in Prader-Willi syndrome (PWS), whereas a maternally derived chromosome 15 with a similar deletion is associated with Angelman syndrome (AS).

PWS is characterized by hypotonia; poor feeding in infancy with failure to thrive, but increased appetite and obesity in children and adults; genital hypoplasia; small hands and feet; mild intellectual disability; and distinctive facial features (eg, almond-shaped eyes, narrowed bifrontal diameter, thin upper lip). 

AS is characterized by severe to profound intellectual disability, postnatal microcephaly, and a movement or balance disorder, usually in the form of gait ataxia and/or tremulous movement of limbs. AS patients may have any combination of the following behavior characteristics: frequent laughter or smiling; apparent happy demeanor; an easily excitable personality, often with hand flapping movements; hypermotoric behavior; fascination with water; mouthing behaviors; and a short attention span. 

The question in your exam can ask you - Deletion of which chromosome or disomy of which chromosome causes which disease. So read the question carefully as your answer will change (Maternal /paternal) accordingly.

That's all!


  1. Angelman’s syndrome

    To remember ( indian mom wears Saree )mom - Meternal origin

    S A R I

    mental Retardation
    Inappropriate Launghter

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