3rd Bachelor in Medical Biology - Cytology

Cytogenetic techniques including laboratory work

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ECTS Credits2
Number of Hours (h/year)30
Teaching staffHELLIN, Anne-C├ęcile
Course UnitCompulsory
TermQuad. 1 and 2

Basic notions of genetics ( nucleic acids structure), protein synthesis ( transcription and traduction), genetic code, mitosis and meiosis, gametogenesis.

Aims and Objectives

To know and understand principles of techniques of cytogenetic (caryotype, FISH, MLPA). To have cytogenetic clinical notions. To interpret instructions of chromosomic analysis and to adapt detection technique to researched abnormalities.



  • Genetics history
  • Organization of a genetics department
  • The genetic counselling and the family history
  • The inheritance patterns of genetic diseases.

Theorical background : DNA ; genetic code; from DNA to protein ( transcription and translation); mitosis and meiosis, gametogenesis.

Chromosomes : structure of chromosome ; definition of karyotype ; classification of chromosomes.

The different samples and their indications: constitutional diagnosis; prenatal diagnosis; oncological diagnosis

The different technics of treatment : culture of samples ; treatment of one sample to obtain metaphases; realization of a cellular pellet; techniques of banding; special stainings; observations with microscope; criterias of karyotype analysis and norms of good practise.

Definition and classification of chromosomal abnormalities: numerical abnormalities; structural abnormalities; homogenous karyotype and mosaicism; chromosomal markers; chromosomal aberrations; chromosomal variants.

Molecular cytogenetics: definition; principle; applications; evolution; protocol; kinds of chromosomal probes; special techniques.

Constitutional chromosomal abnormalities: different syndromes

( Down, Edwards, Patau ,Turner and Klinefelter syndromes ; other abnormalities of sexual chromosomes ; microdeletion syndromes; syndromes of chromosomal instability.

Acquired chromosomal abnormalities: genetic and cancer

(genetic susceptibility to cancer; the multi-step process of cancer; acquired chromosomal abnormalities ).


DE GROUCHY J. et TURLEAU C., Atlas des maladies chromosomiques, 2e Ed., 1982.

OFFIT K., Clinical cancer genetics - Risk Counselling & Management, 1998.

CZEPULKOWSKI B., Analyzing Chromosomes, 2001.


GARDNER R.J.M. & SUTHERLAND G.R., Chromosome Abnormalities and Genetic Counselling, 2nd Ed., 1996.

GERSEN S.L. & KEAGLE M.B., The Principles of Clinical Cytogenetics, 1999.

HARPER P.S., Practical Genetic Counselling, 1998.

SCHINZEL A., Catalogue of Unbalanced Chromosome Aberrations in man, 2nd Ed., 2001.

ROONEY D.E. & CZEPULKOWSKI B.H., Human Cytogenetics, 1994.

ROONEY D.E., Human Cytogenetics - Malignancy and acquired abnormalities, 2001.

ROONEY D.E., Human Cytogenetics - Constitutional analysis, 2001.

VERMA R.S. & BABU A., Human Chromosomes - Manual of basic techniques, 1989.

CLARK M.S. & WALL W.J., Chromosomes - The Complex Code, 1996.

BONTHRON D., FITZPATRICK D., PORTEOUS M. & TRAINER A., Clinical Genetics - A case-based approach, 1998.

HEIM S. & MITELMAN F., Cancer Cytogenetics - Chromosomal and Molecular Genetic Aberrations of Tumor Cells, 2nd Ed., 1995.

MARK H.F.L., Medical Cytogenetics, 2000.

KORF B.R., Human Genetics - A Problem-based Approach, 2nd Ed., 1999.

Teaching and Learning MethodsLectures
Laboratory work

Lectures (24 h) – Tutorials (6 h)

Assessment MethodsOral examinations

+ practical participation


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