Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Practice Guideline
, 12 (11), 742-5

Array-based Technology and Recommendations for Utilization in Medical Genetics Practice for Detection of Chromosomal Abnormalities

Affiliations
Practice Guideline

Array-based Technology and Recommendations for Utilization in Medical Genetics Practice for Detection of Chromosomal Abnormalities

Melanie Manning et al. Genet Med.

Abstract

Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient's genome can be examined for gains or losses of genetic material too small to be detected by standard G-banded chromosome studies. This increased resolution of microarray technology over conventional cytogenetic analysis allows for identification of chromosomal imbalances with greater precision, accuracy, and technical sensitivity. A variety of array-based platforms are now available for use in clinical practice, and utilization strategies are evolving. Thus, a review of the utility and limitations of these techniques and recommendations regarding present and future application in the clinical setting are presented in this study.

Similar articles

See all similar articles

Cited by 134 PubMed Central articles

See all "Cited by" articles

References

    1. Manning M, Hudgins L. Use of array-based technology in the practice of medical genetics. Genet Med. 2007;9:650–653. - PubMed
    1. Trask BJ. Human cytogenetics: 46 chromosomes, 46 years and counting. Nat Rev Genet. 2002;3:769–778. - PubMed
    1. Shaffer LG, Beaudet AL, Brothman AR, et al. Microarray analysis for constitutional cytogenetic abnormalities. Genet Med. 2007;9:654–662. - PubMed
    1. Pinkel D, Segraves R, Sudar D, et al. High resolution analysis of DNA copy-number variation using comparative genomic hybridization to microarrays. Nat Genet. 1998;20:207–211. - PubMed
    1. Bejjani BA, Saleki R, Ballif BC, et al. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalances: is less more? Am J Med Genet. 2005;134:259–267. - PubMed

Publication types

MeSH terms

Feedback