Article

Loss of Heterozygosity on the Distal Long Arm of Chromosome 15: An Allusion for Prader-willi Syndromes?

2021-10-11

Abstract excerpt

<title>Abstract</title> <p>BackgroundPrader-Willi syndrome (PWS) is a rare neurodevelopmental disorder that is partially caused by maternal uniparental disomy (UPD) of chromosome 15. Copy-neutral loss of heterozygosity (CN-LOH) observed on the distal long arm of chromosome 15 may be an indicator of UPD and may require additional genetic testing as chromosome 15 is known to harbor imprinted genes.MethodsChromosome...

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Literature Corpus work: ef87a458-e580-5f64-a8c4-decaddf39c6b
DOI: 10.21203/rs.3.rs-944633/v1

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