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Chromosome abnormalities without phenotypic consequences

javegod 添加于 2009-10-8 21:30 | 1920 次阅读 | 0 个评论

作者
Kowalczyk M, Srebniak M, Tomaszewska A
摘要
Some changes in chromosome morphology, detected during cytogenetic analysis, are not associated with clinical defects. Therefore a proper discrimination of harmless variants from true abnormalities, especially during prenatal diagnosis, is crucial to allow precise counseling. In this review we described chromosome variants and examples of chromosome anomalies that are considered to be unrelated to phenotypic consequences. The correlation between the presence of marker chromosomes and a risk of clinical signs is also discussed. Structural rearrangements of heterochromatic material, satellite polymorphism, or fragile sites, are well-known examples of common chromosome variation. However, the absence of clinical effects has also been reported in some cases of chromosome abnormalities concerning euchromatin. Such euchromatic anomalies were divided into 2 categories: unbalanced chromosome abnormalities (UBCAs), such as deletions or duplications, and euchromatic variants (EVs). Recently so-called molecular karyotyping, especially whole-genome screening by the use of high-resolution array-CGH technique, contributed to revealing a high number of previously unknown small genomic variations, which seem to be asymptomatic, as they are present in phenotypically normal individuals.
详细资料
- 关键词: Aneuploidy; *Chromosome Aberrations; Chromosome Deletion; Chromosome Fragile Sites; Euchromatin/genetics; Female; Gene Rearrangement; Genetic Markers; Genetic Variation; Heterochromatin/genetics; Humans; Karyotyping; Male; Nucleolus Organizer Region; Phenotype
- 文献种类: Journal Article
- 期刊名称: Journal of Applied Genetics
- 期刊缩写: J Appl Genet
- 期卷页: 2007年第48卷第2期 157-166页
- 地址: Department of Medical Genetics, Medical University of Silesia, Sosnowiec, Poland
- ISBN: 1234-1983
- 备注:PMID:17495350
学科领域生物医药 » 基础医学
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Chromosome abnormalities without phenotypic consequences
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