Rotation in Cytogenetics

Weekly Schedule for Constitutional Cytogenetics

While this schedule attempts to make sure all aspects of work are covered, the actual schedule may vary depending upon the cases which turn up in the particular time frame.  For example, special staining procedures and in situ hybridization are listed in week 4, but will be reviewed whenever a case requires that these techniques be used.  The same is true of special studies such as periumbilical blood sampling, FISH on uncultured cells for prenatal diagnosis, etc. 

Week 1

1. Observe and review procedures for setting up, harvesting, and analysis for cytogenetics studies of blood and bone marrow
2. Learn how to analyze a karyotype, both normal and abnormal, and by the manual scissor/paper method and by using image analysis software. (see Dr. Levy for a set of 5 abnormal cases for you to karyotype)
3. Research at least two abnormal cases involving different types of trisomy - obtain clinical history and follow-up
4. Review question set #1 and schedule a time to review answers with the Director (bring trisomy cases with you)
5. Set up blood culture on yourself on Friday of the first week so that you can prepare your karyotype during week 2
6. See patients in genetics clinic with Drs. Warburton, Yeboa or Brown referred for cytogenetic studies when appropriate (continue this during rotation)

Week 2

1. Make chromosome preparations and analyze your own karyotype.
2. Observe and review procedures for prenatal sampling and cytogenetic studies: amniocentesis, chorionic villus sampling, periumbilical blood sampling.
3. Review reasons for referral for samples from obstetrics service
4. Review at least three abnormal cases involving sex chromosome abnormalities
5. Review question set #2 and schedule a time to review answers with the Director (bring abnormal cases with you)
6. Review cytogenetic nomenclature

Week 3

1. Observe and review all special staining procedures (Q-banding, C-banding, SCE analysis, R-banding, NOR staining), with indications for each
2. Review cases of balanced and unbalanced translocations
3. Review question set #3 and schedule a time to review answers with the Director (bring abnormal cases with you)

Week 4

1. Observe and review fluorescent in-situ hybridization procedures including indication for testing
2. Review abnormal cases involving an autosomal deletion, one using FISH, a marker chromosome and mosaicism
3. Review question set #4 and schedule a time to review answers with the Director (bring abnormal cases with you)
4. Review CAP Checklist in Cytogenetics