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SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory.

Pathology - 1 Oct 2023

Ngo Con, Baluyot Maria, Bennetts Bruce, Carmichael Johanna, Clark Alissa, Darmanian Artur, Gayagay Thet, Jones Luke, Nash Benjamin, Clark Melanie, Jose Ngaire, Robinson Samantha, St Heaps Luke, Wright Dale

Abstract excerpt

Single nucleotide polymorphism (SNP) chromosome microarray is well established for investigation of children with intellectual deficit/development delay and prenatal diagnosis of fetal malformation but has also emerged for uniparental disomy (UPD) genotyping. Despite published guidelines on clinical indications for testing there are no laboratory guidelines published for performing SNP microarray UPD genotyping....

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Child
Chromosomes
Genomic Imprinting
Genotype
Polymorphism, Single Nucleotide

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Uniparental Disomy

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PMID: 37414616
DOI: 10.1016/j.pathol.2023.04.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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