Melanie Manning

Publication Details

  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities GENETICS IN MEDICINE Manning, M., Hudgins, L. 2010; 12 (11): 742-745

    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.

    View details for DOI 10.1097/GIM.0b013e3181f8baad

    View details for Web of Science ID 000284105800012

    View details for PubMedID 20962661

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