ReviewMolecular genetics & genomic medicine2021
Interstitial duplication of 20q11.22q13.11: A case report and review of literature.
Review in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.Scientific reports · 2024Article
- Interstitial duplication of 20q11.22q13.11: A case report and review of literature.Molecular genetics & genomic medicine · 2021Review
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Authors and funding
6 authors.
Funding
Abstract
backgroundReports of interstitial duplication of chromosome 20q11 are rare with only nine published patients to date.
methodsWe performed karyotype and chromosomal microarray analysis on a peripheral blood sample for our patient and reviewed the genes in the region to provide genotype-phenotype correlation.
resultsClinical features of the patient include minor dysmorphic facial features, shorthands and feet, bilateral conductive hearing loss, global developmental delay, and behavioral issues with attention deficit hyperactivity disorder. Together with previously published cases of 20q11 duplication, we show that patients with overlapping duplications share a similar clinical phenotype of dysmorphic craniofacial features and developmental delay.
conclusionWe report an 8-year-old girl with a 9.1 Mb interstitial duplication of chromosome 20q11.22q13.11. Our observations suggest that a novel duplication syndrome and documentation of similar cases will further help clarify the phenotype.
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