A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion

Abstract

We reascertained a family in which first cousins were affected by Angelman syndrome and Prader-Willi syndrome. A paracentric inversion of 15q11-q15 had previously been reported in this family but we show, using fluorescence in situ hybridization (FISH), that the rearrangement segregating in this family is not a paracentric inversion but an inverted intrachromosomal insertion, inv ins(15)(q15q13q11.2). We also describe a further recombinant resulting in a maternal duplication of the Prader-Willi/Angelman critical region. This family illustrates the importance of distinguishing paracentric inversions from intrachromosomal insertions.