Video Lecture Utility of Array Comparative Genomic Hybridization as a Primary Analysis for the Indication of Developmental Delay/Mental Retardation

Cytogenetic analysis by way of a G-banded chromosome study has been a standard laboratory test for the identification of the etiology of developmental delay and mental retardation. The development of fluorescence in situ hybridization (FISH) to identify smaller abnormalities within the genome allowed for identification of recurrent microdeletions and microduplication syndromes in this population, however, FISH is not a whole genome analysis and therefore suspicion of particular syndromes was required. Genomic microarray analysis has subsequently revolutionized the cytogenetic field for the discovery of imbalances associated with developmental delay or mental retardation as it combines the potential for whole genome analysis with the resolution available by FISH. This presentation will highlight the benefits of microarray analysis as well as the current limitations for use of this technology in the pediatric population presenting with mental retardation/developmental delay.

Originally presented November 14th, 2008 in Salt Lake City, Utah.

Lecture Presenter

Sarah South, Ph.D Sarah South, Ph.D
Assistant Professor of Pediatrics , Adjunct Professor of Pathology, University of Utah
Medical Director, Cytogenetics and Genetic Processing, ARUP Laboratories

Dr. South received her PhD from the John Hopkins School of Medicine in human genetics and completed a postdoctoral research fellowship in prenatal genetics at the John Hopkins Hospital and a clinical cytogenetics fellowship at the University of Utah School of Medicine. She is board certified in clinical cytogenetics by the American Board of Medical Genetics.
Dr. South regularly lectures for the genetic counseling and nursing programs and coordinates Chromosome Rounds for the Division of Medical Genetics at the University of Utah, oversees the rotations through the cytogenetic laboratories for the Genetic Counseling students, Pediatric Residents, Pathology Fellows and Ob/Gyn Fellows and the processing of samples in the laboratory for the Children's Oncology Group (COG) and Southwestern Oncology Group (SWOG).
Her research interests include the development of new technologies for enhanced detection and characterization of chromosome abnormalities.

Objectives

After this presentation, attendees will be able to:

  • Understand the key elements of a chromosome analysis, a FISH analysis and a microarray analysis
  • Understand the areas in which microarray can improve upon a standard chromosome analysis
  • Recognize the limitations of microarray studies and the areas in which chromosome and FISH analyses are still ideal

Sponsored by:

University of Utah School of Medicine and ARUP Laboratories