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...

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Veröffentlicht in:	European journal of medical genetics 2020-08, Vol.63 (8), p.103956, Article 103956
Hauptverfasser:	Bellil, Hela, Molina-Gomes, Denise, Quibel, Thibaud, Roy, Sophie, Dard, Rodolphe, Vialard, François, Herve, Bérénice
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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