Competency information
Details
Perform a basic chromosome analysis on a minimum of three cases that demonstrate different chromosomal syndromes or anomalies.
Considerations
- Basic chromosome identification.
- Karyotype construction.
- G-banding.
- Numerical and structural anomalies and normal variation.
- Relationship of basic chromosomal anomalies to clinical features in patients.
- Correct ISCN nomenclature.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 | Outcome Observe and reflect on the patient pathway from sample receipt to issuing of the clinical reports for a range of genetic referrals. |