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. Author manuscript; available in PMC: 2019 Mar 1.
Published in final edited form as: Clin Genet. 2018 Feb 5;93(3):622–631. doi: 10.1111/cge.13142

Table IB. Summary of PWS Genetic Subtypes for PWHO Participants.

PWS Subtype Total (N=70) Males (N=33) Females (N=37) Age BMI Number of Psychiatric Disorders
15q11-q13 Deletion 36 (51%) 17 (51%) 19 (51%) 38±10yr 28±4 3.9±1.1
Maternal Uniparental Disomy 15 29 (42%) 13 (40%) 16 (44%) 35±10yr 28±7 4.3±1.2
Imprinting Defect/Microdeletion* 5 (7%) 3 (9%) 2 (5%) 31±7yr 27±2 5.0±1.6
*

Three siblings (2 males and 1 female) in a single family of five adults with PWS at the PWHO group home had the same microdeletion of the imprinting center (imprinting defects) identified with MS-MLPA and by high-resolution SNP microarray analysis. One participant was excluded due to an inability to obtain a sufficient amount of high quality DNA and two participants did not have PWS by genetic testing.