ArticleBMC medical genetics2009
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.
Article in BMC medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- 1q21.1 Microduplication expression in adults.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Pooled it
- Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.Molecular and cellular pediatrics · 2026Article
- Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review.Endocrine, metabolic & immune disorders drug targets · 2024Review
- Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.Clinical dysmorphology · 2020Review
- Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1.Frontiers in genetics · 2020Article
- Early Hereditary Diffuse Gastric Cancer (eHDGC) is Characterized by Subtle Genomic Instability and Active DNA Damage Response.Pathology oncology research : POR · 2019Article
- Mutations inGenes & development · 2018Article
- Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.Italian journal of pediatrics · 2017Article
- Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.The journal of gene medicine · 2017Article
- Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.Journal of applied genetics · 2017Article
- Article
- 1q21.1 microduplication in a patient with mental impairment and congenital heart defect.Molecular medicine reports · 2015Article
- Are copy number variants associated with adolescent idiopathic scoliosis?Clinical orthopaedics and related research · 2014Article
- Mosaic copy number variation in schizophrenia.European journal of human genetics : EJHG · 2013Article
- Article
- Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.European journal of human genetics : EJHG · 2012Article
- Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era.The application of clinical genetics · 2012Article
- Transcription factor pathways and congenital heart disease.Current topics in developmental biology · 2012Review
- 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome.European journal of pediatrics · 2011Article
- An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMicrodeletion of the chromosome 22q11.2 region is the most common genetic aberration among patients with velocardiofacial syndrome (VCFS) but a subset of subjects do not show alterations of this chromosome region.
methodsWe analyzed 18 patients with VCFS-like features by comparative genomic hybridisation (aCGH) array and performed a face-to-face slide hybridization with two different arrays: a whole genome and a chromosome 22-specific BAC array. Putative rearrangements were confirmed by FISH and MLPA assays.
resultsOne patient carried a combination of rearrangements on 1q21.1, consisting in a microduplication of 212 kb and a close microdeletion of 1.15 Mb, previously reported in patients with variable phenotypes, including mental retardation, congenital heart defects (CHD) and schizophrenia. While 326 control samples were negative for both 1q21.1 rearrangements, one of 73 patients carried the same 212-kb microduplication, reciprocal to TAR microdeletion syndrome. Also, we detected four copy number variants (CNVs) inherited from one parent (a 744-kb duplication on 10q11.22; a 160 kb duplication and deletion on 22q11.21 in two cases; and a gain of 140 kb on 22q13.2), not present in control subjects, raising the potential role of these CNVs in the VCFS-like phenotype.
conclusionsOur results confirmed aCGH as a successful strategy in order to characterize additional submicroscopic aberrations in patients with VCF-like features that fail to show alterations in 22q11.2 region. We report a 212-kb microduplication on 1q21.1, detected in two patients, which may contribute to CHD.
Indexed as
Identifiers
What OpenQuestion holds
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.