ArticleMolecular cytogenetics2014
A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review.Frontiers in genetics · 2026Pooled it
- Monoallelic Mutations inCirculation. Genomic and precision medicine · 2020Article
- Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.Molecular genetics & genomic medicine · 2019Review
- Further delineation of Malan syndrome.Human mutation · 2018Article
- Perinatal findings in a patient with a novel large chromosome 19p deletion.Clinical case reports · 2018Article
- Genetics and genomic medicine in Morocco: the present hope can make the future bright.Molecular genetics & genomic medicine · 2016Article
- An integer programming framework for inferring disease complexes from network data.Bioinformatics (Oxford, England) · 2016Article
- 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.Molecular cytogenetics · 2016Article
- Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population.PloS one · 2015Article
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7 authors.
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Abstract
backgroundWe report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before.
resultArray comparative genomic hybridization (aCGH) revealed in the present patient a de novo microdeletion of 1.45 Mb within 19p13.2p13.12. The deletion includes seven OMIM genes: MAN2B1, RNASEH2A, KLF1, GCDH, NFIX, CACNA1A and CC2D1A. DISCUSSION: The present case and three other patients with partially overlapping 19p13 microdeletion share the following features: psychomotor and language delay, intellectual disability, seizures, hypotonia, skeletal anomalies and facial dysmorphism. The smallest region of overlapping between all four reported patients is around 300 kb and spans only two genes: NFIX and CACNA1A. Their haploinsufficincy could be the base for the phenotype -genotype correlation.
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