ArticleAmerican journal of human genetics2013
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT00556530 (Genetic Modifiers of 22q11.2 Deletion Syndrome), which is not on this map. Cited by 24 papers.
What it found
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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.
Genetic Modifiers of 22q11.2 Deletion Syndrome
Who cites it
24 citing papers in PubMed, 65 citations in OpenAlex.
- Prenatal Diagnosis and Clinical Phenotypic Heterogeneity of 22q11.2 Microdeletion Syndrome Based on a Single Center Retrospective Study.Journal of clinical laboratory analysis · 2025Review
- Article
- Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.Genes · 2024Review
- Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.Genes · 2022Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.European journal of human genetics : EJHG · 2021Article
- Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders.Neuroscience bulletin · 2018Article
- Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.Human genetics · 2018Article
- Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Human molecular genetics · 2018Article
- A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.Scientific reports · 2017Article
- Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples.Molecular cytogenetics · 2017Article
- Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting.Prenatal diagnosis · 2017Article
- Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.American journal of human genetics · 2016Article
- Schizophrenia Spectrum Disorders in a Danish 22q11.2 Deletion Syndrome Cohort Compared to the Total Danish Population--A Nationwide Register Study.Schizophrenia bulletin · 2016Article
- Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.PLoS genetics · 2016Article
- Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.American journal of human genetics · 2016Article
- The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology.BioMed research international · 2016Article
- 22q11.2 deletion syndrome.Nature reviews. Disease primers · 2015Review
- Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities.Molecular cytogenetics · 2015Article
- 22q11 deletion syndrome: current perspective.The application of clinical genetics · 2015Review
Corrections and comments
- Erratum issuedJarlbrzkowski, Maria [corrected to Jalbrzikowski, Maria]
Authors and funding
58 authors at 20 institutions in 10 countries.
Funding
Abstract
Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to be determined whether there are parent-of-origin biases for the de novo 22q11.2 deletion. To address this question, we genotyped a total of 389 DNA samples from 22q11DS-affected families. A total of 219 (56%) individuals with 22q11DS had maternal origin and 170 (44%) had paternal origin of the de novo deletion, which represents a statistically significant bias for maternal origin (p = 0.0151). Combined with many smaller, previous studies, 465 (57%) individuals had maternal origin and 345 (43%) had paternal origin, amounting to a ratio of 1.35 or a 35% increase in maternal compared to paternal origin (p = 0.000028). Among 1,892 probands with the de novo 22q11.2 deletion, the average maternal age at time of conception was 29.5, and this is similar to data for the general population in individual countries. Of interest, the female recombination rate in the 22q11.2 region was about 1.6-1.7 times greater than that for males, suggesting that for this region in the genome, enhanced meiotic recombination rates, as well as other as-of-yet undefined 22q11.2-specific features, could be responsible for the observed excess in maternal origin.
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