title: Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.
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.
authors.affiliation: Department of Human Genetics, Catholic University Leuven, Leuven, Belgium. Joris.Vermeesch@med.kuleuven.be.
authors.forename: Caroline
authors.initials: C
authors.lastname: Robberecht
authors.forename: Thierry
authors.initials: T
authors.lastname: Voet
authors.forename: Gülen E
authors.initials: GE
authors.lastname: Utine
authors.forename: Albert
authors.initials: A
authors.lastname: Schinzel
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Joris
authors.initials: J
authors.lastname: Vermeesch