Cytogenetics: current status and future prospective 2012

Author: J. Baptista
Submitted: Tuesday 26th of June 2012 02:44:16 PM
Submitted by: egf
Language: English
Content type: Learning resource
Educational levels: expert, qc2, qc3


The study of chromosomes and their structure is the subject of cytogenetics. The year 1956 marked the beginning of modern human cytogenetics when Tjio and Levan defined the number of chromosomes in man as 2n=46. Soon afterwards, a number of scientific discoveries established that a deviation from this number was at the basis of clinical abnormalities thus establishing the medical application of cytogenetics. The field of clinical cytogenetics has greatly expanded since those early days, thanks to the introduction of new technology from chromosomal banding to fluorescence in situ hybridisation (FISH) and to the advent of microarray based comparative genomic hybridisation (array-CGH). The current status of cytogenetics is definitely “the molecular status” and the challenge for the future is to develop the tools that will enable us to translate the laboratory data into information that can be meaningful for patients and their families.


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Original version - English

abstract Baptista_Cytogenetics_current_status_and_future_prospects_5190.pdf

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J. Baptista. Cytogenetics: current status and future prospective 2012. EUROGENE portal. June 2012. online:

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