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• W3041691674 startingPage "764" @default.
• W3041691674 abstract "Abnormalities of gene dosage result in a wide number of effects ranging from being causal for disease to acting as a risk factor or having no clinical effect. Those affects may manifest congenitally or later in life. Reduced penetrance for any of the effects is a common finding and is an essential element of the clinical interpretation of genomic copy number variation. Understanding the mechanisms underlying reduced penetrance due to dosage compensation could provide important insight into potential treatment strategies for people with chromosome abnormalities. Accurate interpretation of genomic copy number variation (CNV) remains a challenge and has important consequences for both congenital and late-onset disease. Hemizygosity dosage characterization of the genes on chromosome 18 reveals a spectrum of outcomes ranging from no clinical effect, to risk factors for disease, to both low- and high-penetrance disease. These data are important for accurate and predictive clinical management. Additionally, the potential mechanisms of reduced penetrance due to dosage compensation are discussed as a key to understanding avenues for potential treatment. This review describes the chromosome 18 findings, and discusses the molecular mechanisms that allow haploinsufficiency, reduced penetrance, and dosage compensation. Accurate interpretation of genomic copy number variation (CNV) remains a challenge and has important consequences for both congenital and late-onset disease. Hemizygosity dosage characterization of the genes on chromosome 18 reveals a spectrum of outcomes ranging from no clinical effect, to risk factors for disease, to both low- and high-penetrance disease. These data are important for accurate and predictive clinical management. Additionally, the potential mechanisms of reduced penetrance due to dosage compensation are discussed as a key to understanding avenues for potential treatment. This review describes the chromosome 18 findings, and discusses the molecular mechanisms that allow haploinsufficiency, reduced penetrance, and dosage compensation. genes with a hemizygous effect only in the presence of a single additional factor; either genetic or environmental. genomic deletions or duplications of 50 base pairs of DNA or larger. the state in which an autosomal gene is present in one copy instead of two. the mechanism by which a gene in hemizygosity causes an abnormal phenotype. the mechanism by which a gene in hemizygosity maintains a normal phenotype. gene duplicates resulting from whole genome duplication. a type of genomic organization within the cell nucleus in which the chromatin loops maintain a close configuration that impacts gene expression." @default.
• W3041691674 created "2020-07-16" @default.
• W3041691674 creator A5083485626 @default.
• W3041691674 date "2020-10-01" @default.
• W3041691674 modified "2023-10-13" @default.
• W3041691674 title "The Consequences of Abnormal Gene Dosage: Lessons from Chromosome 18" @default.
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