ArticleHuman molecular genetics2004
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.
Article in Human molecular genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
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Who cites it
61 citing papers in PubMed, 1 synthesis or guideline pooled it, 146 citations in OpenAlex.
- In search of the optimal surgical treatment for velopharyngeal dysfunction in 22q11.2 deletion syndrome: a systematic review.PloS one · 2012Pooled it
- Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.Nature communications · 2026Article
- Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome.BMC endocrine disorders · 2025Article
- Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes.Clinical reviews in allergy & immunology · 2025Review
- Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects.Journal of neurodevelopmental disorders · 2023Article
- Lateral thinking in syndromic congenital cardiovascular disease.Disease models & mechanisms · 2023Article
- Contribution of schizophrenia polygenic burden to longitudinal phenotypic variance in 22q11.2 deletion syndrome.Molecular psychiatry · 2022Article
- Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.Diagnostics (Basel, Switzerland) · 2022Review
- Clinical Features of Aberrations Chromosome 22q: A Pilot Study.Global medical genetics · 2022Article
- DiGeorge syndrome: consider the diagnosis.BMJ case reports · 2022Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Searching the Dark Genome for Alzheimer's Disease Risk Variants.Brain sciences · 2021Review
- Inborn errors of thymic stromal cell development and function.Seminars in immunopathology · 2021Review
- Lessons Learned from CNV Analysis of Major Birth Defects.International journal of molecular sciences · 2020Review
- Review
- Characteristics of velopharyngeal dysfunction in 22q11.2 deletion syndrome: a retrospective case-control study.Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale · 2020Article
- Persistent Feeding and Swallowing Deficits in a Mouse Model of 22q11.2 Deletion Syndrome.Frontiers in neurology · 2020Article
- Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2018Article
- What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.American journal of medical genetics. Part A · 2018Article
- Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.Human molecular genetics · 2018Article
1 more citing papers are in PubMed but not listed here.
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12 authors at 3 institutions in 1 country.
Funding
Abstract
Chromosome 22q11.2 deletions are found in almost 90% of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS). Large, chromosome-specific low copy repeats (LCRs), flanking and within the deletion interval, are presumed to lead to misalignment and aberrant recombination in meiosis resulting in this frequent microdeletion syndrome. We traced the grandparental origin of regions flanking de novo 3 Mb deletions in 20 informative three-generation families. Haplotype reconstruction showed an unexpectedly high number of proximal interchromosomal exchanges between homologs, occurring in 19/20 families. Instead, the normal chromosome 22 in these probands showed interchromosomal exchanges in 2/15 informative meioses, a rate consistent with the genetic distance. Meiotic exchanges, visualized as MLH1 foci, localize to the distal long arm of chromosome 22 in 75% of human spermatocytes tested, also reflecting the genetic map. Additionally, we found no effect of proband gender or parental age on the crossover frequency. Parental origin studies in 65 de novo 3 Mb deletions (including these 20 patients) demonstrated no bias. Unlike Williams syndrome, we found no chromosomal inversions flanked by LCRs in 22 sets of parents of 22q11 deleted patients, or in eight non-deleted patients with a DGS/VCFS phenotype using FISH. Our data are consistent with significant aberrant interchromosomal exchange events during meiosis I in the proximal region of the affected chromosome 22 as the likely etiology for the deletion. This type of exchange occurs more often than is described for deletions of chromosomes 7q11, 15q11, 17p11 and 17q11, implying a difference in the meiotic behavior of chromosome 22.
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