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Proband
In medical genetics 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 Pedigree chart, 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. 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 anc ...
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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 facts ( descriptive knowledge), skills (proced ... that involves the diagnosis and management of hereditary 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 In biology, a gene (from ''genos'' "...Wilhelm Johannsen coined the word gene to describe the Men ...s. Medical genetics differs from human genetics Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genet ... in that human genetics is a field of scientific research that may or may no ...
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National Institutes Of Health
The National Institutes of Health (NIH ) is the primary agency of the United States government The federal government of the United States (U.S. federal government or U.S. government) is the national government of the United States The United States of America (USA), commonly known as the United States (U.S. or US), or Ameri ... responsible for biomedical Biomedicine (also referred to as Western medicine, mainstream medicine or conventional medicine)
and
public health Public health has been defined as "the science and art of Preventive healthcare, preventing disease", prolonging life and improving quality of life through organized efforts and inf ...
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Pedigree Chart
A pedigree chart is a diagram that shows the occurrence and appearance of phenotype In genetics Genetics is a branch of biology Biology is the natural science that studies life and living organisms, including their anatomy, physical structure, Biochemistry, chemical processes, Molecular biology, molecular inter ...s of a particular gene or organism In biology Biology is the natural science that studies life and living organisms, including their anatomy, physical structure, Biochemistry, chemical processes, Molecular biology, molecular interactions, Physiology, physiological me ... and its 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 biology, offspring are the young born of living organism, organisms, produced either by a single organism or, in the ...s from one generation to the next, most commonly humans Humans (''Homo sapiens'') are the most p ...
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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 living organisms, including their anatomy, physical structure, Biochemistry, chemical processes, M .... It can be caused by a mutation In biology Biology is the natural science that studies life and living organisms, including their anatomy, physical structure, Biochemistry, chemical processes, Molecular biology, molecular interactions, Physiology, physiological mechan ... in a single gene In biology Biology is the natural science that studies life and living organisms, including their anatomy, physical structure, Biochemistry, chemical processes, Molecular biology, molecular interactions, Physiology, physiological mecha ... (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality A chromosome abnor ...
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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 necessarily age). A ''biological parent'' is a person whose gamete resulted in a child, a male ... or (recursively Recursion (adjective: ''recursive'') occurs when a thing is defined in terms of itself or of its type. Recursion is used in a variety of disciplines ranging from linguistics to logic. The most common application of recursion is in mathematics ...) the parent of an antecedent (i.e., a grandparent Grandparents are the parents of a person's father or mother – paternal or maternal. Every sexually-reproducing living organism who is not a genetic chimera has a maximum of four genetics, genetic grandparents, eight genetic great-grandparents ..., great-grandparent Grandparents are the parent A parent is a caregiver of the off ...
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Penetrance
Penetrance in genetics Genetics is a branch of biology Biology is the natural science that studies life and living organisms, including their anatomy, physical structure, Biochemistry, chemical processes, Molecular biology, molecular interactions, Physiology, ... is the proportion of individuals carrying a particular variant (or allele An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is one of two, or more, forms of a given gene In biology, a gene (from ''genos'' "...Wilhelm Johannsen coined the word gene to describe the Mendelian_inheritance ...) of a gene In biology Biology is the natural science that studies life and living organisms, including their anatomy, physical structure, Biochemistry, chemical processes, Molecular biology, molecular interactions, Physiology, physiological mecha ... (the genotype The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the ...
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Expressivity (genetics)
In genetics Genetics is a branch of biology Biology is the natural science that studies life and living organisms, including their anatomy, physical structure, Biochemistry, chemical processes, Molecular biology, molecular interactions, Physiology, ..., expressivity is the degree to which a phenotype In genetics Genetics is a branch of biology Biology is the natural science that studies life and living organisms, including their anatomy, physical structure, Biochemistry, chemical processes, Molecular biology, molecular inter ... is expressed by individuals having a particular genotype The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific .... (Alternately, it may refer to the expression of particular gene In biology Biology is the natural scienc ...
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Medical Diagnosis
Medical diagnosis (abbreviated Dx, Dx, or Ds) is the process of determining which disease A disease is a particular abnormal condition that negatively affects the structure A structure is an arrangement and organization of interrelated elements in a material object or system A system is a group of Interaction, interactin ... or condition explains a person's symptom Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality show ...s and signs. It is most often referred to as diagnosis with the medical 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 facts ( descriptive knowledge), skills (proced ... context being implicit. The inf ...
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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 Affinity (law), affinity (by marriage or other relationship). The purpose of families is to maintain the w ..., 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 kinship In , kinship is the web of social relationships that form an important part of the lives of all humans in all societies, although its exact meanings even within this discipline are often debated. Anthropologist states that "the study of kins ... and pedigrees of its members. The results are often displayed in charts or written as narratives. The field of family history is broader than genealogy, and covers not just lineage but ...
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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 language The German la ... for "ancestor table"; ) or ''ahnenreihe'' ("ancestor series"; ) is a genealogical numbering systemImage:Eytzinger - Thesaurus principum.jpg, 300px, The first Ahnentafel, published by Michaël Eytzinger in ''Thesaurus principum hac aetate in Europa viventium'' Cologne: 1590, pp. 146-147, in which Eytzinger first illustrates his new functional theo ... for listing a person's direct ancestors in a fixed sequence of ascent. The subject (or probandIn 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 m ...) of the ahne ...
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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 birth) or Affinit ..., the progenitor (rarer: primogenitor; german: Stammvater or ''Ahnherr'') is the – sometimes legendary – founder of a family In human society A society is a Social group, group of individuals involved in persistent Social relation, social interaction, or a large social group sharing the same spatial or social territory, typically subject to the same Politic ..., line of descent In anthropology, kinship is the web of social relationships that form an important part of the lives of all humans in all societies, although its exact meanings even within this discipline are often debated. Anthropologist Robin Fox states tha ..., clan A clan is a group of people A people is any plurality of ...
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