- a paternal de novo deletion of 15q11-q13 (70% of cases);
- maternal disomy 15, where both chromosomes 15 come from the mother (25-29% of cases); and,
- an imprinting defect (in the remaining) with a microdeletion of the imprinting center or an epimutation controlling the expression of imprinted genes in the region. See Imprinting (GeneTests).
- If this test is positive, cytogenetic analysis with FISH (fluorescent in situ hybridization using the SNRPN probes will identify the 15q11-q13 deletion seen in the majority of subjects (70-75%). Explanation of FISH (genome.gov)
- If the methylation test is negative, PWS is unlikely to be the diagnosis and other diagnoses should be considered. If PWS is still strongly suspected, targeted sequence analysis may be available at a small number of reference labs. PWS Genetic Testing (GeneTests)
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
See all Pediatric Genetics services providers (5) in our database.
See all Prader-Willi Clinics services providers (1) in our database.
For other services related to this condition, browse our Services categories or search our database.
Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri
VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG.
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Hum Genet. 2011;130(4):517-28. PubMed abstract / Full Text
|Content Last Updated:||2/2015|