Cytogenetics Rotation

Clinical cytogenetics is the evaluation of chromosomes, their structure, and inheritance, as applied to the practice of medical genetics. Chromosome analysis is an important diagnostic tool in clinical medicine for both constitutional and neoplastic disorders. Conventional cytogenetic analysis for routine clinical purposes, using either non-neoplastic tissue (constitutional cytogenetics) or neoplastic tissue (cancer cytogenetics), includes:

  • Tissue culture of the specimen
  • Metaphase arrest of dividing cells with chemicals that inhibit the mitotic spindle
  • Exposure to hypotonic solution to swell the cells and thus release the chromosomes
  • Slide preparation and staining, which permits the microscopic analysis of each chromosome in a metaphase preparation, to enable the observation of any aberrations
  • Preparation of images called karyotypes, either on paper or electronically, which display all the chromosomes of a metaphase
  • Interpretation of the results (normal or abnormal) within the context of the patient's indication for the study and clinical presentation
  • Generation of a report, which conveys the patient results in cytogenetic nomenclature

A uniform system of chromosome identification is internationally accepted for the identification of human chromosomes and the designation of abnormalities that are present. Such chromosomal analysis can detect various types of aberrations that fall into two major groups:

  • Numerical: gain or loss of whole chromosomes
  • Structural: alteration of the structure of one or more chromosomes



One month





  • Clinical Pathology Lecture
  • Clinical Pathology Rounds
  • Adult Hematology/Oncology Clinical Case Conference
  • Pediatric Hematology/Oncology Leukemia Conference
  • Clinical Genetics Grand Rounds

Basic Reading

Week One

Constitutional Disorders (Didactic)

Required Reading

Thompson and Thompson Genetics in Medicine, 7th Edition, by Nussbaum, McInnes, and Willard

  • Chapter 1: Introduction
  • Chapter 2: Chromosomal Basis of Heredity
  • Chapter 3: The Human Genome: Structure and Function of Genes and Chromosomes
  • Chapter 9: Principles of Clinical Cytogenetics
  • Chapter 10: Clinical Cytogenetics: Disorders of the Autosomes and the Sex Chromosomes

Robbins Pathologic Basis of Disease, 7th Edition, by Cotran RS, Kumar V, and Robbins SC

Week Two

Myeloid Disorders/Lymphoid Disorders (Didactic)

Myeloid Disorders

Week Three

Week Four

Additional Reading and Sources

All books and atlases available in directors' offices.

Historical Perspective

Human and Mammalian Cytogenetics: An Historical Perspective, by Hsu TC

Human Cytogenetics

The AGT Cytogenetics Laboratory Manual by Barch, M.J., Knutsen T. and Spurbeck, J.L.

Human Chromosomes: Structure, Behavior, and Effects by Therman E and Susman M

Chapter 1: Origins and directions of human cytogenetics

Catalogue of Chromosome Aberrations in Cancer (Progress & Topics in Cytogenetics) by Mitelman F

Clinical Atlases

Smith's Recognizable Patterns of Human Malformation by Jones KL:

Catalogue of Unbalanced Chromosome Aberrations in Man, by Schinzel A

Human Genetics Texts

The Metabolic and Molecular Bases of Inherited Disease by Scriver CR et al

Emery and Rimoins Principles and Practice of Medical Genetics by Rimoin DL, Connor JM, Pyeritz RE, and Korf BR

Prenatal Diagnosis and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling by Gardner RJM and Sutherland GR

Journals Featuring Human Cytogenetics

  • American Journal of Human Genetics
  • American Journal of Medical Genetics
  • Annals of Human Genetics
  • Blood
  • British Journal of Haematology
  • Cancer Genetics & Cytogenetics
  • Chromosoma
  • Cytogenetic and Genome Research
  • Genes, Chromosomes & Cancer
  • Genomics
  • Hereditas
  • Human Genetics
  • Human Heredity
  • Human Molecular Genetics
  • Journal of Heredity
  • Journal of Medical Genetics
  • Leukemia
  • Leukemia & Lymphoma
  • Nature Genetics
  • Prenatal Diagnosis
  • Somatic Cell Genetics