Abstract
The study of chromosomes using traditional cytogenetic techniques requires cells that are actively dividing. Chromosomes are individually distinguishable under the light microscope only during cell division and are best examined during metaphase. Metaphase chromosomes can be obtained from specimens that contain spontaneously dividing cells or ones that are cultured and chemically induced to divide in vitro.
Specimens that contain spontaneously proliferating cells include bone marrow, lymph nodes, solid tumors, and chorionic villi. If there are not enough naturally dividing cells for a chromosome analysis, these specimen types may also be cultured in the laboratory. Peripheral blood lymphocytes, tissue biopsies, and amniotic fluid samples are routinely cultured to obtain dividing cells; lymphocytes usually require the addition of a mitotic stimulant. The choice of specimen for chromosome analysis depends on clinical indications and whether the diagnosis is prenatal or postnatal.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Barch MJ, Knutsen T, Spurbeck JL, editors. The AGT cytogenetic laboratory manual. Philadelphia: Raven-Lippincott; 1997.
Rooney DE, editor. Human cytogenetics: constitutional analysis. 3rd ed. Oxford: Oxford University Press; 2001.
Rooney DE, Czepulkowski BH, editors. Human cytogenetics: a practical approach, volume I constitutional analysis. New York: IRL Press, Oxford University Press; 1992.
Verma RS, Babu A. Human chromosomes. New York: McGraw-Hill, Inc.; 1995.
The American College of Medical Genetics (ACMG) Standards and Guidelines for Clinical Genetics Laboratories. ACMG 2009 Edition/Revised 01/2010; www.acmg.net/StaticContent/SGs/Section_E_2011.pdf
References
Dicker F, Schnittger S, Haferlach T, Kern W, Schoch C. Immunostimulatory oligonucleotide-induced metaphase cytogenetics detect chromosomal aberrations in 80% of CLL patients: a study of 132 CLL cases with correlation to FISH, IgVH status, and CD38 expression. Blood. 2006;108:3152–60.
Strucsi S, Gervais C, Helias C, Herbrecht R, Audhuy B, Mauvieux L. Stimulation of B-Cell Lymphoproliferations with CpG-Oligonucleotide DSP-30 Plus IL-2 Is More Effective than with TPA to Detect Clonal Abnormalities. Poster presented at American Society of Hematology 50th Annual Meeting and Exposition, 2008.
Meloni-Ehrig A, Meck J, Christacos N, et al. Stimulation of B-cell mature malignancies with the Cpg-oligonucleotide DSP30 and IL2: which malignancies respond best? Poster presented at American Society of Hematology 51st Annual Meeting and Exposition, 2009.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2013 Springer Science+Business Media New York
About this chapter
Cite this chapter
Keagle, M.B., Gersen, S.L. (2013). Basic Cytogenetics Laboratory Procedures. In: Gersen, S., Keagle, M. (eds) The Principles of Clinical Cytogenetics. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1688-4_4
Download citation
DOI: https://doi.org/10.1007/978-1-4419-1688-4_4
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4419-1687-7
Online ISBN: 978-1-4419-1688-4
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)