Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes

Abstract

Comparative molecular analysis of chromosome 15, sub-band q11.2 of patients with the Prader-Willi or Angelman syndromes demonstrates that they have a similar deletion. An hypothesis is presented that attempts to explain the tremendous degree of clinical heterogeneity in these diverse deletion-associated syndromes based on abnormal haplotypes present on the cytogenetically normal homolog. This hypothesis also addresses genetic similarities between patients who have deletion and those who have the inv dup(15) by postulating that these syndromes are caused by relative dosage ratios of normal versus abnormal alleles.