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In
medical genetics Medical genetics is the branch of medicine Medicine is the science Science () is a systematic enterprise that builds and organizes knowledge Knowledge is a familiarity, awareness, or understanding of someone or something, such as ...
and other medical fields, a proband, proposito (male proband), or proposita (female proband)Bennett, RL. The Language of the Pedigree. In: ''The Practical Guide to the Genetic Family History''. Wiley-Liss. is a particular subject (person or 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 In the fields of molecular biology Molecular biology is the branch of biology Biology is the natural science that studies life and li ...
. Among the
ancestor An ancestor, also known as a forefather, fore-elder or a forebear, is a parent A parent is a caregiver of the offspring in their own species. In humans, a parent is the caretaker of a child (where "child" refers to offspring, not necessaril ...

ancestor
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
penetrancePenetrance in genetics Genetics is a branch of biology concerned with the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) Though heredity had been observed for millennia, Gregor Mendel, Moravia, Moravian sc ...
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
ancestor An ancestor, also known as a forefather, fore-elder or a forebear, is a parent A parent is a caregiver of the offspring in their own species. In humans, a parent is the caretaker of a child (where "child" refers to offspring, not necessaril ...

ancestor
s (parents, grandparents) from the first generation where the disease is found. The term "proband" is also used in
genealogy Genealogy (from el, γενεαλογία ' "study of family trees") is the study of families In human society, family (from la, familia) is a Social group, group of people related either by consanguinity (by recognized birth) or Affinit ...

genealogy
, where it denotes the root node of an ''
ahnentafel An ''ahnentafel'' (German German(s) may refer to: Common uses * of or related to Germany * Germans, Germanic ethnic group, citizens of Germany or people of German ancestry * For citizens of Germany, see also German nationality law * German ...

ahnentafel
'', also referred to as the
progenitor In genealogy Genealogy (from el, γενεαλογία ' "study of family trees") is the study of families In human society, family (from la, familia) is a Social group, group of people related either by consanguinity (by recognized ...

progenitor
.


References

Classical genetics {{Genetics-stub