[2] On pedigrees, the proband is noted with a square (male) or circle (female) shaded accordingly.
In most cases, the proband is the first affected family member who seeks medical attention for a genetic disorder.
Often, affected ancestors are unknown due to the lack of information regarding those individuals or about the disease at the time they lived.
Conventionally, when drawing a pedigree chart, instead of the first diagnosed person, the proband may be chosen from among the affected ancestors (parents, grandparents) from the first generation where the disease is found.
The term "proband" is also used in genealogy, where it denotes the root node of an ahnentafel, also referred to as the progenitor.