Anatomic Pathology Program

Cytogenetics Rotation

at Quest Diagnostics/Nichols Institute


Rotation Director:
Steven A. Schonberg, Ph.D., FACMG
Goals and Objectives:

Note:  The core competencies addressed by the goals and/or objectives are indicated by PC (Patient Care), MK (Medical Knowledge), PBLI (Practice Based Learning and Improvement), ICS (Interpersonal and Communication Skills), SBP (Systems Based Practice), and P (Professionalism).

By the end of the rotation, the resident will accomplish the following goals:
1.  Introduction to Human Chromosomes


  • Learn the indications for referral for cytogenetic testing (PC, SBP)
  • Understand the sample requirements for successful cytogenetic analysis (MK, ICS)
  • General recognition of each of the human chromosomes (MK)
  • Arrange karyotypes (PC)
  • Recognize abnormalities using correct ISCN nomenclature (MK)
  • Compare similarities and differences in cell culture and harvesting techniques for various tissues, understand the range of methods routinely used for clinical diagnosis in the cytogenetics laboratory (MK, SBP)
  • Become familiar with cytogenetic resources online (SBP, PBLI)
Achievement: via didactic lectures, review of ISCN 2013, and observation
A lecture presentation will be given to the residents. Residents will observe cytogenetic technologists performing sample accessioning, cell culture, harvesting, slide making, and G-banding. Metaphase spreads will be given for karyotype analysis. In addition, each resident with a greater than one week rotation will culture one blood specimen and perform the steps necessary to obtain a karyotype. Residents will observe and participate in the sign-out of several clinical cases by each director.
Evaluation: residents will be evaluated based on their karyotyping and through quizzes.


2.  Numerical Abnormalities


  • Learn the cytogenetic and clinical aspects of common numerical autosomal and sex chromosome abnormalities (MK)
  • Become familiar with mosaic chromosomal abnormalities
  • Understand mitosis and meiosis (MK)
  • Be able to use appropriate nomenclature for numerical/mosaic abnormalities (MK, ICS)
Achievement: via didactic lectures, review of the literature, review of patient charts with typical and atypical abnormalities, and discussion of cases with directors
Evaluation: via quiz and presentation


3.  Structural Abnormalities


  • Learn interpretation of basic structural chromosome abnormalities (MK)
  • Learn consultative skills that aid the clinician in the diagnosis of chromosomal syndromes and to advise requesting physicians on the appropriate use of molecular diagnosis and cytogenetic methods. Residents will develop the communication skills necessary for interaction with other healthcare professionals and patients. Residents will learn to effectively apply his/her general and specialized medical knowledge of clinical cytogenetics in the day-to-day practice of pathology. To assess various clinical situations, propose a reasonable differential diagnosis, and discuss the prognostic and therapeutic implications of the diagnosis. (ICS, P)
Achievement: via didactic lectures, discussion with directors during case sign-out, observation/performance of analysis
Evaluation: via quizzes and case presentation


4.  Fluorescence In Situ Hybridization


  • Learn the battery of interphase and metaphase FISH studies that are available (MK)
  • Understand the hybridization technique (MK)
  • Become familiar with the different strategies used to identify structural abnormalities: single fusion, double fusion, break apart, etc. (MK)
  • Understand the relationship of classical cytogenetic testing with FISH and related molecular testing and the relative advantages and disadvantages of each technology (MK, PBLI)
  • Become familiar with FISH interpretation (PC, MK)
Achievement: residents will learn via didactic lectures, observation/performance of FISH hybridization and analysis, and through discussion with the directors during case sign-out
Evaluation: residents will be evaluated based on quizzes, their case presentation, and input during case sign-out


5.  Cancer Cytogenetics


  • Residents will learn some of the major recurring abnormalities associated with the hematopoietic malignancies (MK)
  • Residents will learn use of website (PBLI, SBP)
  • Become familiar with chromosome abnormalities for subclassification of disease, prognostication, and planning of therapy (PC, MK)
  • Residents will learn to appreciate the heterogeneity, complexity, and natural history of neoplastic disorders that are commonly studied by cytogenetic techniques (PC, MK)
Achievement: via didactic lectures and review and discussion of cases with directors during case sign-out
Evaluation: via quizzes


6.  Cytogenetic Accreditation/Proficiency


  • Residents will become aware of Cytogenetic Accreditation/Proficiency Testing and the College of American Pathologists (CAP) Inspection guidelines.  (PBLI, ICS, SBP)
  • Residents will convey an appreciation of issues in quality assurance and the range of ethical issues involved in the practice of clinical cytogenetics. (P)


7.  Maternal Serum Screening


  • Residents will become aware of the issues involved in maternal serum screening for fetal aneuploidy screening.  (MK, ICS, P)
Achievement: via didactic lectures
Evaluation: via quizzes



  • Level of training: PGY-3 or higher year
Duration and timing of the rotation:
  • 2 weeks
Teaching Staff:
  • Steven A. Schonberg, Ph.D., FACMG, and staff
  • See Goals and Objectives (above)
Method(s) of Evaluation:
  • See Goals and Objectives (above)
  • Residents will be evaluated based on direct observation by faculty
  • After each rotation, residents will be evaluated by faculty in New Innovations



Updated MBM 9/2015