title: Chromosome instability is common in human cleavage-stage embryos.
abstract: Chromosome instability is a hallmark of tumorigenesis. This study establishes that chromosome instability is also common during early human embryogenesis. A new array-based method allowed screening of genome-wide copy number and loss of heterozygosity in single cells. This revealed not only mosaicism for whole-chromosome aneuploidies and uniparental disomies in most cleavage-stage embryos but also frequent segmental deletions, duplications and amplifications that were reciprocal in sister blastomeres, implying the occurrence of breakage-fusion-bridge cycles. This explains the low human fecundity and identifies post-zygotic chromosome instability as a leading cause of constitutional chromosomal disorders.
authors.affiliation: Center for Human Genetics, K.U.Leuven, Belgium.
authors.forename: Evelyne
authors.initials: E
authors.lastname: Vanneste
authors.forename: Thierry
authors.initials: T
authors.lastname: Voet
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Caignec
authors.forename: Michèle
authors.initials: M
authors.lastname: Ampe
authors.forename: Peter
authors.initials: P
authors.lastname: Konings
authors.forename: Cindy
authors.initials: C
authors.lastname: Melotte
authors.forename: Sophie
authors.initials: S
authors.lastname: Debrock
authors.forename: Mustapha
authors.initials: M
authors.lastname: Amyere
authors.forename: Miikka
authors.initials: M
authors.lastname: Vikkula
authors.forename: Frans
authors.initials: F
authors.lastname: Schuit
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Geert
authors.initials: G
authors.lastname: Verbeke
authors.forename: Thomas
authors.initials: T
authors.lastname: D'Hooghe
authors.forename: Yves
authors.initials: Y
authors.lastname: Moreau
authors.forename: Joris R
authors.initials: JR
authors.lastname: Vermeesch
mesh_terms: D000328:Adult; D000782:Aneuploidy; D001757:Blastomeres / Q000473:pathology; D043171:Chromosomal Instability; D004622:Embryo, Mammalian / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D005307:Fertilization in Vitro / Q000009:adverse effects*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D019656:Loss of Heterozygosity; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy