Small supernumerary marker chromosomes: A legacy of trisomy rescue?
chromothripsis
evolutionary trade-off
maternal meiotic nondisjunction
small supernumerary marker chromosome (sSMC)
whole genome paired-end sequencing (WGS)
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
received:
21
08
2018
revised:
07
11
2018
accepted:
07
11
2018
pubmed:
10
11
2018
medline:
10
3
2020
entrez:
10
11
2018
Statut:
ppublish
Résumé
We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contained pericentromeric portions only, whereas eight had additional non-contiguous portions of the same chromosome, assembled together in a disordered fashion by repair-based mechanisms in a chromothriptic event. Maternal hetero/isodisomy was detected with a paternal origin of the sSMC in some cases, whereas in others two maternal alleles in the sSMC region and biparental haplotypes of the homologs were detected. In other cases, the homologs were biparental while the sSMC had the same haplotype of the maternally inherited chromosome. These findings strongly suggest that most sSMCs are the result of a multiple-step mechanism, initiated by maternal meiotic nondisjunction followed by postzygotic anaphase lagging of the supernumerary chromosome and its subsequent chromothripsis.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
193-200Informations de copyright
© 2018 Wiley Periodicals, Inc.