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Chromosome Analysis (Karyotyping)

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Also known as: Karyotype; Cytogenetics; Cytogenetic Analysis; Chromosome Studies; Chromosome Karyotype
Formal name: Chromosome Analysis

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NOTE: This article is based on research that utilizes the sources cited here as well as the collective experience of the Lab Tests Online Editorial Review Board. This article is periodically reviewed by the Editorial Board and may be updated as a result of the review. Any new sources cited will be added to the list and distinguished from the original sources used. To access online sources, copy and paste the URL into your browser.

Sources Used in Current Review

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. Burtis CA, Ashwood ER, Bruns DE, eds. 4th edition, St. Louis: Elsevier Saunders; 2006, Pp 1466-1474.

(April 24, 2014) Petrozza J. Recurrent Early Pregnancy Loss. Medscape Reference. Available online at http://emedicine.medscape.com/article/260495-overview. Accessed April 2016.

Henry's Clinical Diagnosis and Management by Laboratory Methods. 22nd ed. McPherson R, Pincus M, eds. Philadelphia, PA: Saunders Elsevier: 2011, Pp 1293-1312.

(©2016) Mayo Clinic. Chromosome Analysis, Congenital Disorders, Blood. Available online at http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/35248. Accessed April 2016.

(©2016) Mayo Clinic. Chromosome Analysis, Hematologic Disorders, Blood. Available online at http://www.mayomedicallaboratories.com/test-catalog/Overview/35308. Accessed April 2016.

Sources Used in Previous Reviews

Haldeman-Englert, C. (Updated 2010 December 1). Karyotyping. MedlinePlus Medical Encyclopedia [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/003935.htm. Accessed October 2011.

(© 1996-2011). Introduction to Chromosomes. Chromosome Disorder Outreach. [On-line information]. Available online at http://www.chromodisorder.org/CDO/General/IntroToChromosomes.aspx. Accessed October 2011.

(2011 October 4). Handbook, Help me Understand Genetics. Genetics Home Reference, [On-line information]. Available online at http://ghr.nlm.nih.gov/handbook. Accessed October 2011.

Manning, M. and Hudgins, L. (2010 November). Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. ACMG Practice Guidelines Genetics In Medicine v 12 (11) [On-line information]. PDF available for download at http://www.acmg.net/StaticContent/PPG/Array_based_technology_and_recommendations_for.13.pdf. Accessed October 2011.

(© 1995–2011). Unit Code 8696: Chromosome Analysis, for Congenital Disorders, Blood. Mayo Clinic Mayo Medical Laboratories [On-line information]. Available online at http://www.mayomedicallaboratories.com/test-catalog/Overview/8696. Accessed October 2011.

Liptak, G. (Revised 2009 January). Overview of Chromosomal Anomalies. Merck Manual for Healthcare Professionals [On-line information]. Available online through http://www.merckmanuals.com. Accessed October 2011.

(2009 December). Chromosomal abnormalities. March of Dimes [On-line information]. Available online at http://www.marchofdimes.com/baby/birthdefects_chromosomal.html. Accessed October 2011.

(© 2011). Using Karyotypes to Predict Genetic Disorders. Learn. Genetics Genetic Science Learning Center, University of Utah [On-line information]. Available online at http://learn.genetics.utah.edu/content/begin/traits/predictdisorder/. Accessed October 2011.

Pagana, K. D. & Pagana, T. J. (© 2011). Mosby's Diagnostic and Laboratory Test Reference 10th Edition: Mosby, Inc., Saint Louis, MO. Pp 268-269.