Title: Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism
Authors: Robberecht, Caroline
Voet, Thierry
Utine, Gulen E
Schinzel, Albert
de Leeuw, Nicole
Fryns, Jean-Pierre
Vermeesch, Joris # ×
Issue Date: Apr-2012
Publisher: BioMed Central Ltd
Series Title: Molecular Cytogenetics vol:5 issue:1 pages:19
Article number: 19
Abstract: ABSTRACT: Structural copy number variation (CNV) is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found in up to one percent of both the healthy and patient populations. It is generally accepted that such constitutional mosaicisms are derived from postzygotic somatic mutations. However, few studies have tested this assumption. Here we determined the origin of CNVs which coexist with a normal cell line in nine individuals. We show that in 2/9 the CNV originated during meiosis. The existence of two cell lines with 46 chromosomes thus resulted from two parallel trisomy rescue events during postzygotic mitoses.
ISSN: 1755-8166
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research
× corresponding author
# (joint) last author

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