Probands

medical genetics Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to me ...

and other medical fields, a proband, propositus (male proband), or proposita (female proband) is a particular subject (human or other animal) being studied or reported on. On pedigrees, the proband is noted with a square (male) or circle (female) shaded accordingly. Denoting the proband is important, so the relationship to other individuals can be seen and patterns established. In most cases, the proband is the first affected family member who seeks medical attention for a

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders ...

. Among the

ancestor An ancestor, also known as a forefather, fore-elder, or a forebear, is a parent or ( recursively) the parent of an antecedent (i.e., a grandparent, great-grandparent, great-great-grandparent and so forth). ''Ancestor'' is "any person from ...

s of the proband, other subjects may manifest the disease, but the proband typically refers to the member seeking medical attention or being studied, even if affected ancestors are known. Often, affected ancestors are unknown due to the lack of information regarding those individuals or about the disease at the time they lived. Other ancestors might be undiagnosed due to the incomplete

penetrance Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the pr ...

or variable expressivity. The diagnosis of a proband raises the index of suspicion for the proband's relatives and some of them may be diagnosed with the same disease. Conventionally, when drawing a pedigree chart, instead of the first diagnosed person, the proband may be chosen from among the affected

s (parents, grandparents) from the first generation where the disease is found. The term "proband" is also used in

genealogy Genealogy () is the study of families, family history, and the tracing of their lineages. Genealogists use oral interviews, historical records, genetic analysis, and other records to obtain information about a family and to demonstrate kin ...

, where it denotes the root node of an ''

ahnentafel An ''ahnentafel'' ( German for "ancestor table"; ) or ''ahnenreihe'' ("ancestor series"; ) is a genealogical numbering system for listing a person's direct ancestors in a fixed sequence of ascent. The subject (or proband) of the ahnentafel is ...

'', also referred to as the

progenitor In genealogy, a progenitor (rarer: primogenitor; or ''Ahnherr'') is the founder (sometimes one that is legendary) of a family, line of descent, gens, clan, tribe, noble house, or ethnic group.. Ebenda''Ahnherr:''"Stammvater eines Geschlec ...

. "Proband" was also the term for the individual being tested in a

trial by ordeal Trial by ordeal was an ancient judicial practice by which the guilt or innocence of the accused (called a "proband") was determined by subjecting them to a painful, or at least an unpleasant, usually dangerous experience. In medieval Europe, like ...

Classical genetics {{Genetics-stub