ArticleAmerican journal of medical genetics. Part A2012
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 8 citations in OpenAlex.
- 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
- 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.Molecular cytogenetics · 2016Article
- A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.Molecular cytogenetics · 2014Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
We report on a patient with a 1.2 Mb 19p13.12-p13.13 deletion. Compared to previously reported individuals with partially overlapping deletions, the propositus presented with a less severe phenotype, consisting of mild intellectual disability and behavior anomalies, with episodes of simple febrile seizures and without significant physical anomalies or major malformations. The deleted region includes 29 coding genes, some of which have already been demonstrated to be involved in cognitive processes. Mutations in two of them, CC2D1A and TECR, were recently reported to be responsible for non-syndromal, autosomal recessive intellectual disability. The residual alleles of all of these genes were submitted to sequence analysis. No sequence variants were found that could be considered pathogenic. This patient constitutes a further example of the wide phenotypic variability associated with chromosomal rearrangements, likely due to the different size of deleted/duplicated segments.
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