ArticleMolecular syndromology2019
Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions.
Article in Molecular syndromology, 2019. 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, 15 citations in OpenAlex.
- The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.Orphanet journal of rare diseases · 2023Article
- Cytogenomic epileptology.Molecular cytogenetics · 2023Review
- Genotype-Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature.Global medical genetics · 2022Article
- The Effects of 6q26-q27 Terminal Deletion on Intellectual Disability & Brain Malformations and the Genotype/Phenotype Relationship: A Case Report.Noro psikiyatri arsivi · 2022Article
- Genetic heterogeneity in corpus callosum agenesis.Frontiers in genetics · 2022Review
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Terminal microdeletions of the long arm of chromosome 6 are associated with a phenotype that includes multiple brain malformations, intellectual disability, and epilepsy. A 1.7-Mb region has been proposed to contain a gene responsible for the brain anomalies. Here, we present the case of a 12-year-old girl with multiple brain alterations and moderate intellectual disability with a 18-kb deletion in chromosome 6q27, which is smaller than the microdeletions previously described by microarray analysis. We refined the smallest region of overlap possibly associated with the phenotype of brain malformations and intellectual disability to a segment of 325 kb, comprising the
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