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.
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.
Collinson
Morag N
MN
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wilts, United Kingdom. wessex.genetics@salisbury.nhs.uk
Roberts
Siân E
SE
Crolla
John A
JA
Dennis
Nicholas R
NR
D000293:Adolescent; D000328:Adult; D017204:Angelman Syndrome / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D007446:Chromosome Inversion; D020090:Chromosome Segregation; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000737:chemistry / Q000235:genetics; D015342:DNA Probes; D005260:Female; D020440:Gene Duplication; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics*
D015342:DNA Probes; D004247:DNA