ArticleFrontiers in genetics2024
Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature.
Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Clinical Insights into the Neurodevelopmental Impact of 16p CNVs in an Italian Clinical Cohort.Genes · 2026Article
- Case Report: Early infantile drug-resistant epilepsy and gastrointestinal dysmotility associated with aFrontiers in pediatrics · 2026Article
- Proximal 4p deletion syndrome in a woman with intellectual disability: a case report and literature review.Molecular cytogenetics · 2025Article
- 16p13.11 microduplication in 14 fetuses: prenatal diagnosis and postnatal follow-up.Molecular cytogenetics · 2025Article
- Chromosomal Microarray in Children Born Small for Gestational Age - Single Center Experience.Balkan journal of medical genetics : BJMG · 2024Article
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Authors and funding
8 authors.
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Abstract
Background: Chromosome 16p13.11 microdeletion is a very rare copy number variant (CNV), associated with a clinical syndrome characterized by global development delay, neuropsychiatric conditions, facial dysmorphisms, microcephaly, gastroesophageal reflux disease, and congenital heart defects. The 16p13.11 locus is a very unstable genomic region, rich in low-copy number repeats, characterized by many homologous DNA sequences. Usually, the most common CNV of this region include microduplications/duplications, while the microdeletions are rare, and their clinical features are heterogeneous and poorly described so far. Case report: In this paper, we report the genetic and the clinical features of a patient diagnosed with chromosome 16p13.11 microdeletion, and a short review of the literature on this topic. Our patient was characterized by several facial dysmorphic features, autistic symptoms and language development delay. The genetic evaluation revealed and interstitial deletion of the long arm of the chromosome 16, approximately of 1.5 Mb. Conclusion: Interestingly, compared to previous cases, this patient was characterized by autistic symptoms, severe language and motor coordination disorder, without cognitive and cerebral malformations, frequently associated with this microdeletion syndrome.
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