Mosaicism of proximal 15q duplication/deletion resulting in Prader-Willi syndrome with normal methylation.
Boyd
Luke
L
Brown
Michael G
MG
Kelson
Stephen
S
Lawce
Helen
H
Shuttleworth
Sarah
S
Unsworth
Nancy
N
Magenis
R Ellen
RE
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D019175:DNA Methylation; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018895:Microsatellite Repeats; D009030:Mosaicism; D011218:Prader-Willi Syndrome / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic