ArticleAmerican journal of medical genetics. Part A2010
Further characterization of microdeletion syndrome involving 2p15-p16.1.
Article in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 32 citations in OpenAlex.
- Rare Case ofThe application of clinical genetics · 2024Article
- Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.Genes & genomics · 2023Article
- Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting.Genes · 2023Article
- BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.American journal of medical genetics. Part A · 2018Article
- Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.Molecular cytogenetics · 2018Article
- Haploinsufficiency ofMolecular genetics & genomic medicine · 2017Article
- Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.Molecular psychiatry · 2017Article
- De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma.BMJ case reports · 2017Article
- BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.American journal of human genetics · 2016Article
- Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.JCI insight · 2016Article
- Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.PloS one · 2016Article
- Article
- 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.European journal of human genetics : EJHG · 2011Article
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Authors and funding
4 authors at 2 institutions in 3 countries.
Funding
Abstract
We report on a patient presenting with cognitive delay, prenatal and postnatal growth deficiency, microcephaly, ptosis of eyelids, high and broad nasal root, and camptodactyly. Analysis of a dense whole genome single-nucleotide polymorphism (SNP) array showed a de novo 3.35 Mb deletion on 2p15-p16.1. In order to study the parental origin of the deletion we analyzed selected SNPs in the deleted area in the proband and her parents showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of paternal origin. Based on the five cases described previously in the literature, we have narrowed the critical region responsible for the 2p15-p16.1 microdeletion syndrome phenotype. The critical region does not include the VRK2 gene that had been speculated to have a role in cortical dysplasia. However, the association of the VRK2 gene with cortical dysplasia remains to be determined, as MRI imaging of the brain and gene content of the 2p15-16 deletion becomes established in more patients.
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