A clinical cytogeneticist studies human chromosomes in tissue or fluid samples to detect physical or mental disorders, diagnose diseases such as leukemia, infertility, and prenatal defects, and analyze patient samples. They typically have a medical or philosophy degree, complete a two-year medical genetics residency, and a two-year clinical cytogenetics fellowship.
A clinical cytogeneticist is an expert in the field of hereditary diseases and abnormalities. It studies the human chromosomes in a patient’s tissue sample or fluid sample. Chromosomes are a part of the cell nucleus that contains each individual’s DNA that is inherited from their parents. The clinical cytogeneticist works with physicians to detect physical or mental disorders. The word cytogenetics is a combination of cytology, which is the study of cells, and genetics, which is the study of heredity.
Diseases such as leukemia are diagnosed by a clinical cytogeneticist who has examined the bone marrow for signs of chromosome abnormality under a microscope. The clinician often examines sperm samples to diagnose infertility or low sperm count in men to help the fertility specialist in treating couples who are having trouble conceiving. Prenatal defects can be diagnosed by a clinical cytogeneticist by examining the amniotic fluid, which contains DNA from the fetus. Tissue samples are used to detect whether a sample is malignant, cancerous or benign, which would otherwise be considered harmless.
A typical workday for a clinical cytogeneticist might include analyzing patient samples, documenting the results, and presenting the results to the physician. He will prepare the slides using banding and staining techniques, examine the slides under a microscope, and diagnose chromosomal abnormalities based on comparing the cells to normal cells. The clinician often uses several other diagnostic methods, including fluorescence in situ hybridization, which is a method of detecting DNA sequences in chromosomes. The clinical cytogeneticist may also conduct independent research and publish whatever results and conclusions his research leads to. Some time in your week is dedicated to reading current literature, because the field is constantly evolving and developing new techniques.
This is a highly specialized area of clinical medicine. To work in this field, it is usually necessary to be a doctor with a medical or philosophy degree. To qualify, he usually completes a two-year medical genetics residency in a hospital or clinical setting. He will then participate in a clinical cytogenetics fellowship in a postdoctoral program that usually lasts two years, or work in a hospital or clinical setting under another clinical cytogeneticist. The candidate is usually required to pass a molecular genetic pathology exam before seeking a position.
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