Proband
person who undergoes an examination or is the subject of a medical genetics study
In medical genetics and other medical fields, a proband, propositus (male), or proposita (female) is a particular subject (human or other animal) being studied or reported on. On pedigrees, the proband is noted with a triangle (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. Among the ancestors 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 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 ancestors (parents, grandparents) from the first generation where the disease is found.
Other uses
The term "proband" is also used in genealogy, where it denotes the root node of an ahnentafel, also referred to as the progenitor.
Begin with the source’s own compact description: “Proband” is person who undergoes an examination or is the subject of a medical genetics study. The dossier treats that line as a proposition to test through Proband, person and undergoes, not as a finished interpretation.
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The phrase “person who undergoes an examination or is the subject of a medical genetics study” supplies a clear boundary for inquiry. It also exposes the unanswered questions: who defined that boundary, when it became stable and which sources sit outside it.
Vocabulary and entity names are the principal evidence signals here, because they determine the precision of every later search. The source revision retrieved here is dated Jul 9, 2026. The linked authority identifier is Q1640386. None of the 0 selected statements returned an explicit reference.
Overview language is designed for orientation and should not be treated as a substitute for the evidence cited beneath it. The source lead contains qualifying language; that uncertainty should survive quotation, summary and reuse. Authority statements aid reconciliation but still require their own references, qualifiers and ranks to be checked.
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This entry incorporates text from “Proband” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.