A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.
Inherited mosaicism
Ring chromosome 20 syndrome
Ring formation
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Nov 2019
Nov 2019
Historique:
received:
02
04
2018
revised:
24
08
2018
accepted:
28
10
2018
pubmed:
6
11
2018
medline:
7
2
2020
entrez:
3
11
2018
Statut:
ppublish
Résumé
Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by childhood-onset drug-resistant epilepsy, behavioral problems and variable cognitive impairment. While most cases occur sporadically, parent-to-child transmission of ring 20 mosaicism has only been reported in a few exceptional families. We identified a further family with mother-to-child transmission of ring 20 mosaicism. Detailed characterization of the ring chromosome showed a complete ring with preserved telomere repetitive sequences. SNP genotyping excluded mosaic uniparental disomy and indicated that the chromosome was transmitted without recombination from mother to child. These results corroborate the findings of a previous study and support the hypothesis that inherited mosaicism is due to transmission of an unstable chromosome either prone to ring opening or to ring re-formation.
Identifiants
pubmed: 30385235
pii: S1769-7212(18)30256-8
doi: 10.1016/j.ejmg.2018.10.016
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103564Informations de copyright
Copyright © 2018 Elsevier Masson SAS. All rights reserved.