Prader Willi Syndrome:

Signs and symptoms: There are various symptoms for Prader-Willi at various stages
of development. Infants: o o o o Poor muscle tone Distinct facial features Failure to thrive Lack of eye coordination (strabismus)

Early Childhood o o o o o Food craving and weight gain Underdeveloped sex organs Learning disabilities Delayed motor development Behavioral problems

Relation to Genetic Imprinting & Uniperantal Disomy:

One mechanisms for mutation includes uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions. Due to imprinting, the maternally inherited copies of these genes are virtually silent, only the paternal copies of the genes are expressed. PWS results from the loss of paternal copies of this region. Deletion of the same region on the maternal chromosome causes It is one of the first imprinting syndromes in humans.

Diagnosis:
To diagnose the disease doctors look for the symptoms based on the age of the patient. The most telling sign of the disease is very weak muscle tone.

Molecular basis:
Prader-Willi syndrome (PWS) is a disorder caused by a deletion or disruption of genes in the proximal arm of chromosome 15 or by maternal disomy in the proximal arm of chromosome 15.

Angelman:
Sign & Symptoms:
Developmental delays, such as lack of crawling or babbling at 6 to 12 months, and intellectual disability Lack of or minimal speech Inability to walk, move or balance well (ataxia) Trembling movement of arms and legs Frequent smiling and laughter Happy, excitable personality

Relation to Genetic Imprinting & Uniperantal Disomy:

AS is a classic example of genomic imprinting in that it is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. Angelman syndrome is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. Other causes include uniparental disomy, translocation, or single gene mutation in that region.

Diagnosis:
A blood test can detect up to 80-85% of individuals with Angelman syndrome by identifying whether the UBE3A gene is functioning properly. For the remaining 15-20% of individuals, an experienced clinician who is familiar with Angelman syndrome can provide a clinical diagnosis. To find a clinician in your area, contact the ASF.

Molecular basis:
Angelman Syndrome is inherited through maternal imprinting of the long arm of chromosome 15. The most common mechanism of transmission is as a deletion of bands 15q11-q12 inherited from the mother (This is the same exact region as Prader-Willi Syndrome, but with maternal imprinting).