ArticleThe Journal of molecular diagnostics : JMD2010
Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.
Article in The Journal of molecular diagnostics : JMD, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 40 citations in OpenAlex.
- Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.Current allergy and asthma reports · 2023Review
- Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.Journal of clinical immunology · 2023Review
- Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing.Journal of pediatric genetics · 2022Article
- Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.Molecular psychiatry · 2020Article
- A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.Scientific reports · 2020Article
- Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size.Molecular psychiatry · 2020Article
- The many lives of type IA topoisomerases.The Journal of biological chemistry · 2020Review
- The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review.Journal of pediatric genetics · 2020Review
- Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.Journal of clinical immunology · 2017Article
- Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- Identification of Copy Number Variations in Isolated Tetralogy of Fallot.Pediatric cardiology · 2015Article
- 22q11.2 deletion syndrome.Nature reviews. Disease primers · 2015Review
- Developmental trajectories in 22q11.2 deletion.American journal of medical genetics. Part C, Seminars in medical genetics · 2015Review
- Article
- A pyrosequencing-based assay for the rapid detection of the 22q11.2 deletion in DNA from buccal and dried blood spot samples.The Journal of molecular diagnostics : JMD · 2014Article
- Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Article
- Screening for large rearrangements of the RB1 gene in Iranian patients with retinoblastoma using multiplex ligation-dependent probe amplification.Molecular vision · 2013Article
- Transcription factor pathways and congenital heart disease.Current topics in developmental biology · 2012Review
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 22q11 deletion syndrome, which is caused by a 1.5- to 3.0-megabase hemizygous deletion in chromosome 22q11.2, has a prevalence of 1/2000 to 1/4000. However, the syndrome presents with highly variable phenotypes and thus may be underestimated among Danish newborns. To establish a true incidence of 22q11.2 deletions among certain manifestations, eg, congenital heart disease, on selected Danes, a multiplex ligation-dependant probe amplification (MLPA) analysis was designed. The analysis was planned to be performed on DNA extracted from dried blood spot samples (DBSS) obtained from Guthrie cards collected during neonatal screening programs. However, the DNA concentration necessary for a standard MLPA analysis (20 ng) could not be attained from DBSS, and a novel MLPA design was developed to permit for analysis on limited amounts of DNA (2 ng). A pilot study is reported here that validates the new MLPA design using nine patients diagnosed with the 22q11.2 deletion and 101 controls. All deletions were identified using DNA extracted from DBSS, and no copy number variations were detected in the controls, resulting in a specificity and sensitivity of 100%. It is thereby concluded that the novel MLPA probe design is successful and reliable using minimal amounts of DNA. This allows for use of DBSS samples in a retrospective study of 22q11.2 deletion among certain manifestations associated with DiGeorge Syndrome.
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