Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.
Six persons with the classical Angelman syndrome (AS) phenotype and de novo deletions of chromosome 15q11-q13 were studied to determine the parental origin of the chromosome deletion. Four of the 6 patients had informative cytogenetic studies and all demonstrated maternal inheritance of the deletion. These findings, together with other reported cases of the origin of the chromosome 15 deletion in AS, suggest that deletion of the maternally contributed chromosome leads to the AS phenotype. This contrasts with the Prader-Willi syndrome (PWS) in which a similar deletion of the paternally contributed chromosome 15 is observed. In deletion cases, a parental gamete effect such as genomic imprinting may be the best model to explain why apparently identical 15q11-q13 deletions may develop the different phenotypes of AS or PWS.
Williams
C A
CA
Raymond C. Philips Research and Education Unit, Department of Pediatrics, University of Florida, Gainesville.
Zori
R T
RT
Stone
J W
JW
Gray
B A
BA
Cantu
E S
ES
Ostrer
H
H
D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005149:Facial Expression; D005260:Female; D005684:Gait; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D007845:Laughter; D008297:Male; D009035:Mothers; D009069:Movement Disorders / Q000235:genetics*; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities*