Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations.
Eur J Med Genet
; 63(8): 103956, 2020 Aug.
Article
em En
| MEDLINE
| ID: mdl-32439619
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 2
/
Transtornos Cromossômicos
/
Duplicação Cromossômica
/
Aconselhamento Genético
/
Triagem de Portadores Genéticos
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
França