ArticleMolecular cytogenetics2010
MLPA for confirmation of array CGH results and determination of inheritance.
Article in Molecular cytogenetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 30 citations in OpenAlex.
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- The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.BMC medical genomics · 2019Article
- Duplication of 10q24 locus: broadening the clinical and radiological spectrum.European journal of human genetics : EJHG · 2019Article
- Early Hereditary Diffuse Gastric Cancer (eHDGC) is Characterized by Subtle Genomic Instability and Active DNA Damage Response.Pathology oncology research : POR · 2019Article
- CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study.Molecular cytogenetics · 2018Article
- Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features.Molecular cytogenetics · 2016Article
- Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.International journal of medical sciences · 2014Article
- Molecular genetic testing and the future of clinical genomics.Nature reviews. Genetics · 2013Review
- Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients.Molecular cytogenetics · 2013Article
- Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India.Indian journal of human genetics · 2013Article
- Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.PloS one · 2013Article
- BBGRE: brain and body genetic resource exchange.Database : the journal of biological databases and curation · 2013Article
- Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.Molecular cytogenetics · 2012Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundArray CGH has recently been introduced into our laboratory in place of karyotype analysis for patients with suspected genomic imbalance. Results require confirmation to check sample identity, and analysis of parental samples to determine inheritance and thus assess the clinical significance of the abnormality. Here we describe an MLPA-based strategy for the follow-up of abnormal aCGH results.
resultsIn the first 17 months of our MLPA-based aCGH follow-up service, 317 different custom MLPA probes for novel aCGH-detected abnormalities were developed for inheritance studies in 164 families. In addition, 110 samples were tested for confirmation of aCGH-detected abnormalities in common syndromic or subtelomeric regions using commercial MLPA kits. Overall, a total of 1215 samples have been tested by MLPA. A total of 72 de novo abnormalities were confirmed.
conclusionsConfirmation of aCGH-detected abnormalities and inheritance of these abnormalities are essential for accurate diagnosis and interpretation of aCGH results. The development of a new service utilising custom made MLPA probes and commercial MLPA kits for follow-up studies of array CGH results has been found to be efficient and flexible in our laboratory.
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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.