Medical Genetics - V. M. Zaporozhan 2005

Classification, general characteristics, and symptomatology of hereditary diseases. General clinical diagnostics
General principles of clinical diagnostics of hereditary diseases

A distinctive feature of clinical genetics is that the subject of research is not an individual patient, but a family. In the narrow sense of the word, a family refers to a parent couple and their children, though sometimes it encompasses a broader circle of relatives. Gathering information about a family begins with the proband. A proband is the person who seeks medical attention or first comes to the attention of the researcher. This may be a child, an adult, or a married couple. Today, families who already have an affected child are more likely to seek Genetic Counseling. In this case, genetic counseling is termed retrospective, and the proband is the affected individual.

The Diagnosis of Hereditary diseases typically involves two stages:

1) a General clinical examination of the patient, compilation and Analysis of the pedigree, as well as paraclinical examinations as indicated (ultrasound, radiological, endocrinological, immunological, etc.);

2) if a specific hereditary pathology is suspected, specialized genetic testing (cytogenetic, DNA Diagnostics, special Biochemical Methods).