ArticleMolecular syndromology2013
Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2.
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.Genes · 2026Review
- A Novel Distal 22Q11.21 Microduplication in a 43-Year-Old Male Patient with Mild Intellectual Disability, Social Cognitive Dysfunctions, and Anxiety.Clinical neuropsychiatry · 2023Article
- BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes.Molecular diagnosis & therapy · 2021Article
- 22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature.Journal of pediatric genetics · 2020Article
- Review
- 22q11.2 Microduplication: An Enigmatic Genetic Disorder.Journal of pediatric genetics · 2018Article
- 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.Clinical case reports · 2017Article
- Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.Molecular genetics & genomic medicine · 2015Article
- Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication.Genetics research international · 2015Article
- Distal 22q11.2 Microduplication: Case Report and Review of the Literature.Child neurology openArticle
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 22q11.2 duplication syndrome has been recently characterized as a new entity with features overlapping the 22q11.2 deletion syndrome. Most 22q11.2 duplications represent reciprocal events of the typical 3-Mb deletions extending between low copy repeat (LCR) 22-A and LCR22-D. It has been suggested that the clinical manifestations observed in patients with 22q11.2 microduplications may range from milder phenotypes to multiple severe defects, and this variability could be responsible for many undetected cases. Here, we report on a patient with a 1.2-Mb microduplication at 22q11.2 spanning LCR22-F and LCR22-H which harbor the SMARCB1 and SNRPD3 genes. The patient presented healed cleft lip, mild facial dysmorphism, cognitive deficit, and delayed language development associated with severe behavioral problems including learning difficulties and aggressive behavior.
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