ArticleHuman mutation2008
Detailed analysis of 22q11.2 with a high density MLPA probe set.
Article in Human mutation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 116 citations in OpenAlex.
- Presence, Severity, and Functional Associations of Incomplete Hippocampal Inversion in 22q11.2 Deletion Syndrome.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2026Article
- Review
- Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.Nature communications · 2024Article
- Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders.Journal of neurodevelopmental disorders · 2024Article
- 22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders.Molecular syndromology · 2023Article
- A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2023Article
- Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus.BMJ case reports · 2022Article
- DiGeorge syndrome: consider the diagnosis.BMJ case reports · 2022Article
- Genomic frontiers in congenital heart disease.Nature reviews. Cardiology · 2022Review
- Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome.Brain and behavior · 2021Article
- CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease.Clinical Medicine Insights. Cardiology · 2021Article
- Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020Article
- Comprehensive Molecular Characterization Identifies Distinct Genomic and Immune Hallmarks of Renal Medullary Carcinoma.Cancer cell · 2020Article
- Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method.BioMed research international · 2020Article
- Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health.Orphanet journal of rare diseases · 2019Article
- Clinical presentation and genetic profiles of Chinese patients with velocardiofacial syndrome in a large referral centre.Journal of genetics · 2019Article
- Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.Pediatric research · 2018Article
- White matter microstructural deficits in 22q11.2 deletion syndrome.Psychiatry research. Neuroimaging · 2017Article
- Autism Spectrum and psychosis risk in the 22q11.2 deletion syndrome. Findings from a prospective longitudinal study.Schizophrenia research · 2017Article
- Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.Molecular syndromology · 2017Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
The presence of chromosome-specific low-copy repeats (LCRs) predisposes chromosome 22 to deletions and duplications. The current diagnostic procedure for detecting aberrations at 22q11.2 is chromosomal analysis coupled with fluorescence in situ hybridization (FISH) or PCR-based multiplex ligation dependent probe amplification (MLPA). However, there are copy number variations (CNVs) in 22q11.2 that are only detected by high-resolution platforms such as array comparative genomic hybridization (aCGH). We report on development of a high-definition MLPA (MLPA-HD) 22q11 kit that detects copy number changes at 37 loci on the long arm of chromosome 22. These include the 3-Mb region commonly deleted in DiGeorge/velocardiofacial syndrome (DGS/VCFS), the cat eye syndrome (CES) region, and more distal regions in 22q11 that have recently been shown to be deleted. We have used this MLPA-HD probe set to analyze 363 previously well-characterized samples with a variety of different rearrangements at 22q11 and demonstrate that it can detect copy number alterations with high sensitivity and specificity. In addition to detection of the common recurrent deletions associated with DGS/VCFS, variant and novel chromosome 22 aberrations have been detected. These include duplications within as well as deletions distal to this region. Further, the MLPA-HD detects deletion endpoint differences between patients with the common 3-Mb deletion. The MLPA-HD kit is proposed as a cost effective alternative to the currently available detection methods for individuals with features of the 22q11 aberrations. In patients with the relevant phenotypic characteristics, this MLPA-HD probe set could replace FISH for the clinical diagnosis of 22q11.2 deletions and duplications.
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Registered trials
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