Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations.
2q13 microduplication
Genetic counseling
Inheritance
Susceptibility locus
Variant of unknown significance
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:
Aug 2020
Aug 2020
Historique:
received:
18
10
2019
revised:
11
05
2020
accepted:
16
05
2020
pubmed:
23
5
2020
medline:
29
12
2020
entrez:
23
5
2020
Statut:
ppublish
Résumé
In recent years, the introduction of novel genome analysis technologies (such as array comparative genomic hybridization) has enabled the prenatal diagnosis of various recurrent copy number variations (CNVs). Some of these CNVs have been linked to a greater susceptibility of developmental and neuropsychiatric disorders; for example, recurrent duplication at the 2q13 locus is associated with developmental delay, dysmorphism and intellectual disability. However, this CNV has low penetrance and variable clinical expressivity. It also can be observed in healthy controls and can be transmitted by unaffected parents, making genetic counseling especially challenging. Here, we report on the inheritance of a 2q13 duplication in an asymptomatic family; the case highlights the role of the family survey in genetic counseling with regard to novel CNVs diagnosed before birth.
Identifiants
pubmed: 32439619
pii: S1769-7212(19)30707-4
doi: 10.1016/j.ejmg.2020.103956
pii:
doi:
Types de publication
Case Reports
Letter
Langues
eng
Sous-ensembles de citation
IM
Pagination
103956Informations de copyright
Copyright © 2020. Published by Elsevier Masson SAS.
Déclaration de conflit d'intérêts
Declaration of competing interest None to declare.