Section: Cytogenetics

Duration: 1 month required rotation

Goals & Objectives

The goal of this clinical Cytogenetics rotation is to provide the residents with an overview of Medical Genetics, including exposure to standard karyotype analysis, prenatal diagnosis, cancer genetics, and molecular cytogenetics (FISH). The resident will gain an appreciation for the basic techniques in cytogenetics including tissue culture, cell harvest, slide preparations, banding, special staining, microscopy, and computer assisted karyotyping.

By the end of the rotation, the resident will be expected to be able to interpret the clinical data and correlate laboratory findings with various clinical outcomes in unknown case studies.

1. The resident will work with a senior technologist to establish a blood culture using standard techniques and will perform a karyotype analysis of the resulting cells. He/she will proceed through all steps of the protocol including cell harvest, slide preparation, staining, and chromosome interpretation with guidance from the technical staff.
2. The resident will observe the culture of amniotic fluid, tissue, and bone marrow cells. The resident will learn how each of these tissue types is processed for cytogenetics analysis.
3. The resident will observe the technique of fluorescence in situ hybridization. He/she will learn the difference between site specific, repeat sequence and whole chromosome painting probes and the appropriate applications of each.
4. The resident will learn the function and application of the computer assisted karyotyping system.
5. The resident will attend and participate in the weekly Cytogenetics Case conference. In addition, the resident will be given 15-20 unknown cases for analysis. He/she will work up each case, write a sample report, and discuss the findings with the laboratory director.
6. The resident will review the principles of Medical Genetics and be familiar with the principles of cell division, nondisjunction error, imprinting, mutation, and chromosome structure.
7. The resident will gain an appreciation for the difference between cytogenetics and molecular diagnostics and the appropriate applications for each.
8. The resident will present an inservice to the staff on an area of genetics that he/she is interested in. the presentation should be topical and provide both basic and more complex elements of the subject discussed.
9. After having completed the rotation, the resident will be expected to coordinate with the Laboratory staff in obtaining appropriate specimens and clinical information on cases. On weekends, he/she will report FISH results to clinicians.

Duties & Responsiblities

1. The resident will work with a senior technologist to establish a blood culture using standard techniques and will perform a karyotype analysis of the resulting cells. He/she will proceed through all steps of the protocol including cell harvest, slide preparation, staining, and chromosome interpretation with guidance from the technical staff.
2. The resident will observe the culture of amniotic fluid, tissue, and bone marrow cells. The resident will learn how each of these tissue types is processed for cytogenetics analysis.
3. The resident will observe the technique of fluorescence in situ hybridization. He/she will learn the difference between site specific, repeat sequence and whole chromosome painting probes and the appropriate applications of each.
4. The resident will learn the function and application of the computer assisted karyotyping system.
5. The resident will attend and participate in the weekly Cytogenetics Case conference. In addition, the resident will be given 15-20 unknown cases for analysis. He/she will work up each case, write a sample report, and discuss the findings with the laboratory director.
6. The resident will review the principles of Medical Genetics and be familiar with the principles of cell division, nondisjunction error, imprinting, mutation, and chromosome structure.
7. The resident will gain an appreciation for the difference between cytogenetics and molecular diagnostics and the appropriate applications for each.
8. The resident will present an inservice to the staff on an area of genetics that he/she is interested in. the presentation should be topical and provide both basic and more complex elements of the subject discussed.
9. After having completed the rotation, the resident will be expected to coordinate with the Laboratory staff in obtaining appropriate specimens and clinical information on cases. On weekends, he/she will report FISH results to clinicians.

Evaluation

Residents will be evaluated by the Cytogenetics Laboratory director on their base of knowledge during case. Conferences and their presentation of the unknown case studies. In addition, there will be input on resident's performance in the lab by the Laboratory supervisor and technologists who worked with that resident.

Recommended Reading

1. Borgaonkar, Digamber. 1997. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies, 8th Edition. Alan R. Liss, Inc.
2. De Grouchy, Jean and Catherine Turleau. 1984. Clinical Atlas of Human Chromosomes, 2nd Edition. John Wiley and Sons.
3. Gelehrter, Thomas and Francis Collins. 1998. Principles of Medical Genetics, 2nd Edition. Williams and Wilkins.
4. Hein, Sverre and Felix Mitelman. 1995. Cancer Cytogenetics, 2nd Edition. Alan R. Liss, Inc.
5. ISCN 1995, An International System for Human Cytogenetic Nomenclature. S. Karger.
6. Jaffe, E.S., N.L. Harris, H. Stein, J.W. Vardiman, Eds. 2001. Pathology and Genetics: Tumours of Haematopoietic and Lymphoid Tissues. World Health Organization, IARC Press.
7. McKusick, Victor. 1998. Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes, 12th Edition. Johns Hopkins Press.
8. Mitelman, Felix. 1990. Catalog of Chromosome Aberrations in Cancer. Alan R. Liss, Inc.
9. Rooney, D.E. and B.H. Czepulkowski. 1992. Human Cytogenetics, A Practical Approach, 2nd Edition. IRL Press.
10. Nussbaum, Robert, Roderick McInness, and Huntington Willard. 2001. Thompson and Thompson - Genetics in Medicine, 6th Edition. W.B. Saunders Co.
11. Verma, Ram and Arvind Babu. 1995. Human Chromosomes - Manual of Basic Techniques, 2nd Edition. McGraw Hill, Inc.