Paternal 132 bp deletion affecting
Beckwith-Wiedemann Syndrome
/ epidemiology
Child, Preschool
Chromosomes, Human, Pair 11
/ genetics
DNA Copy Number Variations
/ genetics
DNA Methylation
/ genetics
Female
Genetic Predisposition to Disease
Genomic Imprinting
/ genetics
Germany
Growth Disorders
/ epidemiology
Humans
Infant
Insulin-Like Growth Factor II
/ genetics
KCNQ1 Potassium Channel
/ genetics
Pedigree
Potassium Channels, Voltage-Gated
/ genetics
RNA, Long Noncoding
/ genetics
Silver-Russell Syndrome
/ epidemiology
copy-number
genetics
imprinting
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
20
01
2020
revised:
24
03
2020
accepted:
30
03
2020
pubmed:
25
5
2020
medline:
4
9
2021
entrez:
25
5
2020
Statut:
ppublish
Résumé
The chromosomal region 11p15.5 harbours two imprinting centres ( We identified a family with a 132 bp deletion within the Microdeletions within the paternal IC2 affecting the
Sections du résumé
BACKGROUND
The chromosomal region 11p15.5 harbours two imprinting centres (
METHODS AND RESULTS
We identified a family with a 132 bp deletion within the
CONCLUSION
Microdeletions within the paternal IC2 affecting the
Identifiants
pubmed: 32447323
pii: jmedgenet-2020-106868
doi: 10.1136/jmedgenet-2020-106868
doi:
Substances chimiques
H19 long non-coding RNA
0
IGF2 protein, human
0
KCNQ1 Potassium Channel
0
KCNQ1 protein, human
0
KCNQ1OT1 long non-coding RNA, human
0
Potassium Channels, Voltage-Gated
0
RNA, Long Noncoding
0
Insulin-Like Growth Factor II
67763-97-7
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
173-176Commentaires et corrections
Type : CommentIn
Informations de copyright
© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.