Proband: Difference between revisions
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'''Proband''', or '''propositus''', is a term used most often in [[medical genetics]] and other medical fields to denote a particular subject (person or animal) being studied or reported on.<ref name="ghr">{{cite web|title=Proband glossary entry|url=http://ghr.nlm.nih.gov/glossary=proband|work=Genetics Home Reference|publisher=[[National Institutes of Health|NIH]]|accessdate=20 May 2011}}</ref> On [[ |
'''Proband''', or '''propositus''', is a term used most often in [[medical genetics]] and other medical fields to denote a particular subject (person or animal) being studied or reported on.<ref name="ghr">{{cite web|title=Proband glossary entry|url=http://ghr.nlm.nih.gov/glossary=proband|work=Genetics Home Reference|publisher=[[National Institutes of Health|NIH]]|accessdate=20 May 2011}}</ref> On [[Pedigree_chart|pedigrees]], the proband is noted with an arrow and the box (male) or circle (female) shaded accordingly. It is important to denote the proband, so that the relationship to other individuals can be seen and patterns established. |
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In many cases, the proband is the first affected family member who seeks medical attention for a [[genetic disorder]].<ref name="ghr" /> Between the [[ancestor]]s of the proband, there are very likely other subjects with the manifest disease, but they might be unknown due to the lack of information regarding those individuals or the disease at the time they lived. Other ancestors might be undiagnosed due to the incomplete [[penetrance]] or variable [[expressivity]]. |
In many cases, the proband is the first affected family member who seeks medical attention for a [[genetic disorder]].<ref name="ghr" /> Between the [[ancestor]]s of the proband, there are very likely other subjects with the manifest disease, but they might be unknown due to the lack of information regarding those individuals or the disease at the time they lived. Other ancestors might be undiagnosed due to the incomplete [[penetrance]] or variable [[expressivity]]. |
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Revision as of 12:11, 26 August 2011
Proband, or propositus, is a term used most often in medical genetics and other medical fields to denote a particular subject (person or animal) being studied or reported on.[1] On pedigrees, the proband is noted with an arrow and the box (male) or circle (female) shaded accordingly. It is important to denote the proband, so that the relationship to other individuals can be seen and patterns established.
In many cases, the proband is the first affected family member who seeks medical attention for a genetic disorder.[1] Between the ancestors of the proband, there are very likely other subjects with the manifest disease, but they might be unknown due to the lack of information regarding those individuals or 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.
The term proband is also used in genealogy, where it denotes the root node of an Ahnentafel.
References
- ^ a b "Proband glossary entry". Genetics Home Reference. NIH. Retrieved 20 May 2011.
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