ArticleAmerican journal of medical genetics. Part A2011
Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: genotype-phenotype correlations.
Article in American journal of medical genetics. Part A, 2011. 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, 6 citations in OpenAlex.
- Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Review
- Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.Molecular cytogenetics · 2013Article
- Genetic basis of cohesinopathies.The application of clinical genetics · 2013Article
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Authors and funding
5 authors at 3 institutions in 1 country.
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Abstract
We describe a developmentally normal Amish child who has a karyotype with 47 chromosomes, including a supernumerary ring-shaped chromosome 18 in each metaphase studied. The only phenotypic findings in the patient were hemivertebrae and rib anomalies. Further analysis of interphase cells revealed an additional, less frequent mosaic, apparently normal cell population. Genes in the triplicated region that possibly are contributing to her skeletal phenotype include GATA6, MC2R, MC5R, RBBP8, ESCO1, and ROCK1, among others. By studying such patients with abnormal genetic dosage, genotype-phenotype correlations can be used to refine gene function.
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