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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
Author(s) -
Collinson Morag N.,
Roberts Siân E.,
Crolla John A.,
Dennis Nicholas R.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.26565
Subject(s) - angelman syndrome , chromosomal inversion , gene duplication , genetics , biology , karyotype , gene , chromosome
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.