ArticleBMC medical genetics2012
Genotype-phenotype correlation in 22q11.2 deletion syndrome.
Article in BMC medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 4 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 4 syntheses or guidelines pooled it, 108 citations in OpenAlex.
- Correlation between 22q11.2 deletion syndrome phenotype and deletion location: a meta-analysis.Archives of gynecology and obstetrics · 2025Pooled it
- Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.Orphanet journal of rare diseases · 2019Pooled it
- The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.Nature genetics · 2017Pooled it
- Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.European journal of pediatrics · 2014Guideline
- Disorganized Inhibitory Dynamics in Hippocampal area CA1 of 22q11.2 Deletion Mutant Mice.bioRxiv : the preprint server for biology · 2026Article
- Application of microdeletion and microduplication screening in preimplantation genetic testing: a case report.Journal of medical case reports · 2026Article
- Disentangling Psychopathology and Social Cognition in 22q11.2 Deletion Syndrome with Psychotic Symptoms and Schizophrenia.Schizophrenia bulletin open · 2026Article
- Phonemic-Phonological Profile of People with 22q11.2 Deletion Syndrome: A Pilot Study.Brain sciences · 2025Article
- Hardiness as a Resilience Factor for Adaptation in Families of Children With 22q11.2 Deletion Syndrome: A Mixed Methods Study of Parents' Perspectives.Journal of intellectual disabilities : JOID · 2024Article
- Dopamine Dysregulation in Reward and Autism Spectrum Disorder.Brain sciences · 2024Review
- Human Genetics of Congenital Heart Defects.Advances in experimental medicine and biology · 2024Review
- Article
- Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome.Orphanet journal of rare diseases · 2023Article
- Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome-A Retrospective Analysis.Diagnostics (Basel, Switzerland) · 2023Article
- Article
- Article
- Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome.Journal of neurodevelopmental disorders · 2021Article
- Two novel mouse models mimicking minor deletions in 22q11.2 deletion syndrome revealed the contribution of each deleted region to psychiatric disorders.Molecular brain · 2021Article
- CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease.Clinical Medicine Insights. Cardiology · 2021Article
- Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22q11.2 with highly variable physical and neuropsychiatric manifestations. We explored the genotype-phenotype relationship in a relatively large 22q11.2DS cohort treated and monitored in our clinic using comprehensive clinical evaluation and detailed molecular characterization of the deletion.
methodsMolecular analyses in 142 subjects with 22q11.2DS features were performed by FISH and MLPA methods. Participants underwent clinical assessment of physical symptoms and structured psychiatric and cognitive evaluation.
resultsDeletions were found in 110 individuals including one with an atypical nested distal deletion which was missed by the FISH test. Most subjects (88.2%) carried the 3Mb typically deleted region and 11.8% carried 4 types of deletions differing in size and location. No statistically significant genotype-phenotype correlations were found between deletion type and clinical data although some differences in hypocalcemia and cardiovascular anomalies were noted.Analysis of the patient with the distal nested deletion suggested a redundancy of genes causing the physical and neuropsychiatric phenotype in 22q11.2DS and indicating that the psychiatric and cognitive trajectories may be governed by different genes.
conclusionsMLPA is a useful and affordable molecular method combining accurate diagnosis and detailed deletion characterization. Variations in deletion type and clinical manifestations impede the detection of significant differences in samples of moderate size, but analysis of individuals with unique deletions may provide insight into the underlying biological mechanisms.Future genotype-phenotype studies should involve large multicenter collaborations employing uniform clinical standards and high-resolution molecular methods.
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