Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.
Many Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients have a cytogenetic deletion of 15q11q13. While AS and PWS share a similar cytogenetic anomaly, they have very different clinical phenotypes. DNAs from 4 AS patients were examined using 5 chromosome 15q11q13-specific cloned DNA segments. With the present level of resolution, the molecular deletions between AS and those previously reported for PWS did not appear to differ. However, in contrast to the paternal inheritance of the deleted chromosome 15 observed in the majority of PWS patients, maternal inheritance of the deleted chromosome 15 was demonstrated in the AS patients by restriction fragment length polymorphisms (RFLPs).
Knoll
J H
JH
Division of Genetics, Children's Hospital, Boston, MA 02115.
Nicholls
R D
RD
Magenis
R E
RE
Graham
J M
JM
Lalande
M
M
Latt
S A
SA
D002648:Child; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000235:genetics; D004827:Epilepsy / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011218:Prader-Willi Syndrome / Q000235:genetics*; D013577:Syndrome
D004247:DNA