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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

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
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.
1552-4825
27 - 32
Collinson, M. N.
15f0d18c-4131-414e-9cdc-5549a38d7344
Roberts, S. E.
c850dae2-c2ad-4652-880d-7921205ecfed
Crolla, J. A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Dennis, N. R.
154aa617-52e2-4711-98ef-89fef8610de7
Collinson, M. N.
15f0d18c-4131-414e-9cdc-5549a38d7344
Roberts, S. E.
c850dae2-c2ad-4652-880d-7921205ecfed
Crolla, J. A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Dennis, N. R.
154aa617-52e2-4711-98ef-89fef8610de7

Collinson, M. N., Roberts, S. E., Crolla, J. A. and Dennis, N. R. (2004) 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. American Journal of Medical Genetics Part A, 126A (1), 27 - 32. (doi:10.1002/ajmg.a.26565).

Record type: Article

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.

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Published date: 2004

Identifiers

Local EPrints ID: 24662
URI: https://eprints.soton.ac.uk/id/eprint/24662
ISSN: 1552-4825
PURE UUID: 547d3037-e769-4454-a141-ce223a80037a

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Date deposited: 04 Apr 2006
Last modified: 17 Jul 2017 16:13

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