Unusual 8p Inverted Duplication Deletion with Telomere Capture from 8q

Authors

Karen Buysse, Ghent University Hospital, Ghent, Belgium
Francesca Antonacci, University of Washington
Bert Callewaert, Ghent University Hospital, Ghent, Belgium
Bart Loeys, Ghent University Hospital, Ghent, Belgium
Ulrike Fränkel, Ghent University Hospital, Ghent, Belgium
Victoria Siu, University of Western Ontario
Geert Mortier, Ghent University Hospital, Ghent, Belgium
Frank Speleman, Ghent University Hospital, Ghent, Belgium
Björn Menten, Ghent University Hospital, Ghent, Belgium

Document Type

Article

Publication Date

1-2009

Journal

European Journal of Medical Genetics

Volume

52

Issue

1

First Page

31

Last Page

36

URL with Digital Object Identifier

10.1016/j.ejmg.2008.10.007

Abstract

Inverted 8p duplication deletions are recurrent chromosomal rearrangements that are mediated through non-allelic homologous recombination (NAHR) between olfactory receptor (OR) gene clusters at 8p23.1. These rearrangements result in a proximal inverted duplication of various extent, a single copy region between the OR gene clusters and a terminal 8p deletion. The terminal deletions are stabilized by direct addition of telomeric repeats, so called telomere healing. Here, we report a patient with an unusual inverted duplication deletion of 8p. Stabilization of the broken chromosome end was achieved by telomere capture instead of telomere healing, resulting in an additional duplication of 8q24.13-->qter on the short arm of chromosome 8. Moreover, the inverted duplication was only 3.4 Mb in size (restricted to band 8p22) and thus cytogenetically undetectable. To the best of our knowledge this is the smallest inverted duplication reported hitherto. We describe the molecular characterization by FISH and array CGH of this unusual inv dup del (8p) and a previously reported patient with a similar 8q duplication and review the literature on cases associated with telomere capture.