ArticleMolecular genetics & genomic medicine2013
Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns.
Article in Molecular genetics & genomic medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities.Przeglad menopauzalny = Menopause review · 2024Review
- Novel evidence of CNV deletion inFrontiers in pediatrics · 2024Article
- Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis.BMJ open · 2023Article
- The impact of 22q11.2 copy-number variants on human traits in the general population.American journal of human genetics · 2023Article
- Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series.Children (Basel, Switzerland) · 2020Article
- Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.American journal of human genetics · 2019Article
- 22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.Journal of human genetics · 2018Article
- 16p11.2 transcription factorProceedings of the National Academy of Sciences of the United States of America · 2018Article
- Murine model indicates 22q11.2 signaling adaptorProceedings of the National Academy of Sciences of the United States of America · 2017Article
- Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.Nature neuroscience · 2016Article
- Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.Molecular genetics & genomic medicine · 2015Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosomal microarray analysis has identified many novel microdeletions or microduplications that produce neurodevelopmental disorders with a recognizable clinical phenotype and that are not observed in normal individuals. However, imbalance of other genomic regions is associated with a variable phenotype with intellectual disability (ID) or autism in some individuals but are also observed in completely normal individuals. Several large studies have reported the prevalence of copy number (CN) variants in people with particular features (e.g., ID, autism, schizophrenia, or epilepsy); few studies have investigated the prevalence of genomic CN changes in the general population. We used a high-throughput method to screen 6813 consecutive cord blood samples from a predominantly French-Canadian population to assess genomic CN in five genomic regions: 1p36, 15q11-q13, 16p11.2, 16p11.2-p12.2, and 22q11.2. We identified one deletion and one duplication within 1p36, two deletions of 15q11-q13, eight deletions of 16p11.2-p12.2, two deletions and five duplications of 16p11.2, and six duplications of 22q11.2. This study provides estimates of the frequency of CN variants in an unselected population. Our findings have important implications for genetic counseling.
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