Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2015;16:309-26.
doi: 10.1146/annurev-genom-090413-025346. Epub 2015 May 6.

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence

Affiliations
Review

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence

Christa Lese Martin et al. Annu Rev Genomics Hum Genet. .

Abstract

Since the inception of clinical cytogenetics in the late 1950s, the field has witnessed the evolution of multiple methodologies for the evaluation of chromosomal imbalances and rearrangements. From the replacement of solidly stained chromosomes by Giemsa banding (G-banding) to in situ hybridization and microarrays, each technique has sought to detect smaller and smaller chromosomal aberrations across the genome. Microarray analysis has revealed that copy-number variants-a class of mutation resulting from the loss (deletion) or gain (duplication) of genomic material that is >1 kb in size-are among the significant contributors to human disease and normal variation. Here, we evaluate the history and utility of various methodologies and their impact on the current practice of clinical cytogenetics.

Keywords: G-banding; chromosomal microarray; copy-number variant; cytogenetics; deletion; duplication; karyotype.

Similar articles

See all similar articles

Cited by 6 articles

See all "Cited by" articles

Publication types

LinkOut - more resources

Feedback