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Detection of Chromosomal Aberrations in Interphase and Metaphase Cells in Prenatal and Postnatal Studies

  • William G. Kearnsand
  • Peter L. Pearson
Part of the Methods in Molecular Biology™ book series (MIMB, volume 33)

Abstract

The identification of numerical and structural chromosome abnormalities by routine and high resolution cytogenetic studies plays an important role in the diagnosis and treatment of various diseases. The analysis of structural aberrations is relatively gross and only permits the visual diagnosis of aberrations of single chromosome bands on the order of about seven million base pairs. Chromosome aberrations involving less than five million or so base pairs or those with indistinct banding patterns are difficult or impossible to detect using routine or high resolution cytogenetic studies. Standard cytogenetic techniques also require that the cells to be analyzed must be actively dividing and that they may be arrested during metaphase, thus requirmg a substantial amount of time for sample preparation and analysis.

Keywords

Chorionic Villus Metaphase Chromosome Preparation Cytogenetic Diagnosis Maternal Cell Contamination Cosmid Contig 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Humana Press Inc. 1994

Authors and Affiliations

  • William G. Kearnsand
    • 1
    • 2
  • Peter L. Pearson
    • 1
  1. 1.Center for Medical GeneticsJohns Hopkins University School of MedicineBaltimore
  2. 2.Center for Pediatric ResearchChildren’s Hospital of the King’s Daughters, Eastern Virginia Medical SchoolNorfolk

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