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Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.

European journal of human genetics : EJHG - 1 Jan 2024

Parijs Ilse, Brison Nathalie, Vancoillie Leen, Baetens Machteld, Blaumeiser Bettina, Boulanger Sébastien, Désir Julie, Dimitrov Boyan, Fieremans Nathalie, Janssens Katrien, Janssens Sandra, Marichal Axel, Menten Björn, Meunier Colombine, Van Berkel Kim, Van Den Bogaert Ann, Devriendt Koenraad, Van Den Bogaert Kris, Vermeesch Joris Robert

Abstract excerpt

Maternally inherited 15q11-q13 duplications are generally found to cause more severe neurodevelopmental anomalies compared to paternally inherited duplications. However, this assessment is mainly inferred from the study of patient populations, causing an ascertainment bias towards patients at the more severe end of the phenotypic spectrum. Here, we analyze the low coverage genome-wide cell-free DNA sequencing...

Topics

Pregnancy
Child
Humans
Female
Paternal Inheritance
Alleles
Mothers
Phenotype
Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37029316
DOI: 10.1038/s41431-023-01336-6
PMCID: PMC10772068

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