ArticleEuropean journal of human genetics : EJHG2011
Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Molecular and Functional Assessment ofGenes · 2024Article
- Genomic Mosaicism of the Brain: Origin, Impact, and Utility.Neuroscience bulletin · 2024Review
- Detection ofBiomedicines · 2024Article
- A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report.Molecular medicine reports · 2023Article
- Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.JBMR plus · 2022Article
- Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.Journal of medical genetics · 2021Article
- Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.Human genetics · 2019Article
- Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.Journal of human genetics · 2018Article
- Segmental duplication-quantitative fluorescent-polymerase chain reaction: An approach for the diagnosis of Down syndrome in India.Turkish journal of obstetrics and gynecology · 2018Article
- The Genomic Health of Human Pluripotent Stem Cells: Genomic Instability and the Consequences on Nuclear Organization.Frontiers in genetics · 2018Review
- Digital PCR for discriminating mosaic deletions and for determining proportion of tumor cells in specimen.European journal of human genetics : EJHG · 2016Article
- Unrevealed mosaicism in the next-generation sequencing era.Molecular genetics and genomics : MGG · 2016Review
- Decoding NF1 Intragenic Copy-Number Variations.American journal of human genetics · 2015Article
- "Down syndrome: an insight of the disease".Journal of biomedical science · 2015Review
- Mosaicism of alpha-synuclein gene rearrangements: report of two unrelated cases of early-onset parkinsonism.Parkinsonism & related disorders · 2014Article
- Subtelomeric multiplex ligation-dependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations.Molecular cytogenetics · 2014Article
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6 authors.
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Abstract
'Apparent non-penetrance' occurs in several genetic disorders, including tuberous sclerosis complex and neurofibromatosis type 1: clinically unaffected parents may have multiple affected offspring. Germ line or somatic mosaicism in one of the parents of the index patient is the probable cause and results in an enhanced recurrence risk. Therefore, it is of great importance to use the most sensitive technology for testing DNA of the parents of the index patient for the presence/absence of the familial mutation. To detect large rearrangements multiplex ligation-depending probe amplification (MLPA) is often used. Here we show that MLPA is less sensitive in detecting low-grade somatic mosaicism than fluorescence in situ hybridization (FISH) or a mutation-specific PCR test. Therefore, we recommend FISH (if possible) or PCR analysis for the analysis of parental DNA.
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