ArticleAmerican journal of medical genetics. Part A2008
Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array.
Article in American journal of medical genetics. Part A, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.Orphanet journal of rare diseases · 2022Review
- Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.Molecular genetics & genomic medicine · 2019Article
- Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.Current pediatric reviews · 2019Review
- Benefits and limitations of prenatal screening for Prader-Willi syndrome.Prenatal diagnosis · 2017Review
- Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.Current pediatric reviews · 2016Review
- Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.Journal of endocrinological investigation · 2015Review
- COPS: a sensitive and accurate tool for detecting somatic Copy Number Alterations using short-read sequence data from paired samples.PloS one · 2012Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
We previously developed a novel quantitative microsphere suspension hybridization (QMH) assay for high-throughput determination of genomic copy number by direct hybridization of unique sequence probes to genomic DNA followed by flow cytometric analysis. Herein, we describe the first clinical application of this assay examining the Prader-Willi syndrome (PWS) chromosome region at 15q11-13. We designed 30 unique sequence test probes (approximately 60 nucleotides each) spanning 11.37 Mb of chromosome 15q11.2-q13.3 and a disomic reference probe (Actin Beta, chromosome 7p22.1), conjugated to spectrally distinct polystyrene microsphere levels. All probes were hybridized to biotin-labeled genomic DNA in multiplex QMH reactions, and hybridization was detected using phycoerythrin-labeled streptavidin and analyzed by dual-laser flow cytometry. Copy number differences were distinguished by comparing mean fluorescence intensities (MFI) of the test probes to the reference probe in 20 individuals with PWS and six controls. The mean MFI ratio for deleted loci was 0.56 +/- 0.09 (n = 88) as compared to the MFI ratios for normal loci, 0.96 +/- 0.06 (n = 236), and duplicated loci, 1.44 +/- 0.10 (n = 22). A multiplex QMH assay could readily distinguish type I from type II deletions in PWS subjects, as well as small (approximately 4.3 kb) imprinting center (IC) deletions, with no overlap in MFI values compared with normal loci. Using this diagnostic QMH assay, the precise deleted genomic interval could be ascertained in all PWS subjects examined in the present study.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.