Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-11

AUTHORS

Melanie Manning, Louanne Hudgins

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. More... »

PAGES

742-745

References to SciGraph publications

  • 1998-10. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays in NATURE GENETICS
  • 2007-09. Microarray analysis for constitutional cytogenetic abnormalities in GENETICS IN MEDICINE
  • 2008-12. Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype in MOLECULAR CYTOGENETICS
  • 2009-12. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization in BMC GENOMICS
  • 2007-09. Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes in GENETICS IN MEDICINE
  • 2002-10. Human genetics and disease: Human cytogenetics: 46 chromosomes, 46 years and counting in NATURE REVIEWS GENETICS
  • 2008-03. How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay in GENETICS IN MEDICINE
  • 2001-11. Assembly of microarrays for genome-wide measurement of DNA copy number in NATURE GENETICS
  • 2007-09. Use of array-based technology in the practice of medical genetics in GENETICS IN MEDICINE
  • 2010-02. High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-05. Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH in GENETICS IN MEDICINE
  • 2010-02. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization in GENETICS IN MEDICINE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1097/gim.0b013e3181f8baad

    DOI

    http://dx.doi.org/10.1097/gim.0b013e3181f8baad

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1048163304

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/20962661


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