Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations

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 neurop...

Full description

Saved in:
Bibliographic Details
Published in:European journal of medical genetics 2020-08, Vol.63 (8), p.103956, Article 103956
Main Authors: Bellil, Hela, Molina-Gomes, Denise, Quibel, Thibaud, Roy, Sophie, Dard, Rodolphe, Vialard, François, Herve, Bérénice
Format: Article
Language:English
Subjects:
2q13 microduplication
Adult
Asymptomatic Diseases
Child, Preschool
Chromosome Disorders - diagnosis
Chromosome Disorders - genetics
Chromosome Duplication
Chromosomes, Human, Pair 2 - genetics
Development Biology
Female
Genetic Carrier Screening - methods
Genetic Carrier Screening - standards
Genetic counseling
Genetic Counseling - methods
Genetic Counseling - standards
Genetics
Human genetics
Humans
Inheritance
Life Sciences
Male
Pedigree
Prenatal Diagnosis - methods
Prenatal Diagnosis - standards
Susceptibility locus
Variant of unknown significance
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2020.103956