ArticlePloS one2010
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
Article in PloS one, 2010. 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, 25 citations in OpenAlex.
- Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients.Molecular genetics & genomic medicine · 2024Article
- Clinical Study of 30 NovelFrontiers in molecular neuroscience · 2022Article
- Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20).Molecular syndromology · 2020Article
- Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20.Case reports in genetics · 2020Article
- A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.Journal of human genetics · 2015Article
- Dido mutations trigger perinatal death and generate brain abnormalities and behavioral alterations in surviving adult mice.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.BMC musculoskeletal disorders · 2014Article
- Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures.Epilepsy & behavior case reports · 2013Article
- Evolution of the human-specific microRNA miR-941.Nature communications · 2012Article
- De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene.Birth defects research. Part A, Clinical and molecular teratology · 2011Article
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Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSubtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features. METHODOLOGY/PRINCIPAL
findingsWe characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. There does not appear to be a clinically recognizable constellation of dysmorphic features among individuals with subtelomeric 20q microdeletions. CONCLUSIONS/SIGNIFICANCE: Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including ARFGAP1, CHRNA4 and KCNQ2 and neurodevelopmental deficits. Deletion of this region may play an important role in cognitive development.
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