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

• Published in: American journal of medical genetics. Part A Vol. 126A; no. 1; pp. 27 - 32
• Main Authors: Collinson, Morag N., Roberts, Siân E., Crolla, John A., Dennis, Nicholas R.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-04-2004
• Subjects: Adolescent; Adult; Angelman Syndrome - genetics; chromosome 15; Chromosome Aberrations; Chromosome Banding; Chromosome Inversion; Chromosome Segregation; Chromosomes, Human, Pair 15; DNA - chemistry; DNA - genetics; DNA Probes; duplication; Female; Gene Duplication; Gene Rearrangement; Humans; In Situ Hybridization, Fluorescence; insertion; Karyotyping; Male; Pedigree; Prader-Willi Syndrome - genetics; PWACR
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.26565

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. © 2004 Wiley‐Liss, Inc.