ArticleAmerican journal of human genetics1995
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.
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Who cites it
76 citing papers in PubMed, 245 citations in OpenAlex.
- Associations between prepulse inhibition and executive visual attention in children with the 22q11 deletion syndrome.Molecular psychiatry · 2005Trial
- Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.Nature communications · 2026Article
- Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Out of Line or Altered States? Neural Progenitors as a Target in a Polygenic Neurodevelopmental Disorder.Developmental neuroscience · 2024Review
- Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects.Journal of neurodevelopmental disorders · 2023Article
- Agency Deficits in a Human Genetic Model of Schizophrenia: Insights From 22q11DS Patients.Schizophrenia bulletin · 2022Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Variations in maternal vitamin A intake modifies phenotypes in a mouse model of 22q11.2 deletion syndrome.Birth defects research · 2020Article
- Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.American journal of human genetics · 2020Article
- Risk gene-set and pathways in 22q11.2 deletion-related schizophrenia: a genealogical molecular approach.Translational psychiatry · 2019Article
- Specific differences in temporal binding aspects of the attentional blink in Chromosome 22q11.2 Deletion Syndrome.Cortex; a journal devoted to the study of the nervous system and behavior · 2018Article
- Molecular genetics of 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.American journal of medical genetics. Part A · 2018Article
- Gene expression profiling in the developing secondary palate in the absence of Tbx1 function.BMC genomics · 2018Article
- Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Human molecular genetics · 2018Article
- Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.PLoS genetics · 2017Article
- Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in theCirculation. Cardiovascular genetics · 2017Article
- Identification of a Novel ENU-Induced Mutation in MouseNeural plasticity · 2016Article
- 22q11.2 deletion syndrome.Nature reviews. Disease primers · 2015Review
- Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations.Human mutation · 2015Article
16 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Velo-cardio-facial syndrome (VCFS) is a common genetic disorder among individuals with cleft palate and is associated with hemizygous deletions in human chromosome 22q11. Toward the molecular definition of the deletions, we constructed a physical map of 22q11 in the form of overlapping YACs. The physical map covers > 9 cM of genetic distance, estimated to span 5 Mb of DNA, and contains a total of 64 markers. Eleven highly polymorphic short tandem-repeat polymorphic (STRP) markers were placed on the physical map, and 10 of these were unambiguously ordered. The 11 polymorphic markers were used to type the DNA from a total of 61 VCFS patients and 49 unaffected relatives. Comparison of levels of heterozygosity of these markers in VCFS patients and their unaffected relatives revealed that four of these markers are commonly hemizygous among VCFS patients. To confirm these results and to define further the breakpoints in VCFS patients, 15 VCFS individuals and their unaffected parents were genotyped for the 11 STRP markers. Haplotypes generated from this study revealed that 82% of the patients have deletions that can be defined by the STRP markers. The results revealed that all patients who have a deletion share a common proximal breakpoint, while there are two distinct distal breakpoints. Markers D22S941 and D22S944 appear to be consistently hemizygous in patients with deletions. Both of these markers are located on a single nonchimeric YAC that is 400 kb long. The results also show that the parental origin of the deleted chromosome does not have any effect on the phenotypic manifestation.
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7762562PMC1801093W1598485198What 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.