Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

TLDR

Many PWS and AS patients have a cytogenetic deletion of 15q11q13, yet the same deletion results in markedly different clinical phenotypes. DNAs from four AS patients were examined using five chromosome 15q11q13‑specific cloned DNA segments. The molecular deletions in AS are similar to those reported for PWS, but maternal inheritance of the deleted chromosome 15 was demonstrated in AS patients, unlike the paternal inheritance seen in most PWS cases.

Abstract

Abstract 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).