Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.
Clin Genet
; 98(4): 418-419, 2020 10.
Article
in En
| MEDLINE
| ID: mdl-33294970
ABSTRACT
The clinical impact of duplications affecting the 11p15.5 region is difficult to predict, and depends on the parent-of-origin of the affected allele as well as on the type (deletion, duplication), the extent and genomic content of the variant. Three unrelated families with inheritance of duplications affecting the IC1 region in 11p15.5 through two generations but different phenotypes (Beckwith-Wiedemann and Silver-Russell syndromes, normal phenotype) are reported. The inconsistent phenotypic patterns of carriers of the same variant strongly indicate the impact of cis- and/or trans-acting modifiers on the clinical outcome of IC1 duplication carriers.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Beckwith-Wiedemann Syndrome
/
Insulin-Like Growth Factor II
/
Genetic Predisposition to Disease
/
Silver-Russell Syndrome
/
RNA, Long Noncoding
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Clin Genet
Year:
2020
Document type:
Article
Affiliation country:
Alemania