Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.
Saitoh
S
S
Hosoki
K
K
Takano
K
K
Tonoki
H
H
D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15; D019175:DNA Methylation; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D018895:Microsatellite Repeats / Q000235:genetics; D008957:Models, Genetic; D009030:Mosaicism; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011218:Prader-Willi Syndrome / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics*