Reply to Marazita and Curtis
- Univ. of Washington Medical Center, Seattle, WA (United States); and others
We thank Dr. Marazita for her careful reading of our suggestions and appreciate her point regarding the importance of standardized nomenclature, particularly the definition of proband. Our review of the definition of proband showed a long history of imprecise definitions of the terms {open_quotes}proband,{close_quotes} {open_quotes}index case,{close_quotes} and {open_quotes}propositus/ proposita.{close_quotes} In agreement with the definition in our paper, many authors define proband as {open_quotes}the first family member coming to medical attention{close_quotes}. However, not all of these authors agree that a proband must necessarily be affected with a genetic disease. If the proband is affected, these authors use {open_quotes}proband,{close_quotes} {open_quotes}index case,{close_quotes} and {open_quotes}propositus/proposita{close_quotes} interchangeably. Other authors define a proband as {open_quotes}an affected individual through whom a family is ascertained{close_quotes} These latter authors would then define an index case to be the first affected family member coming to medical attention. If the proband is unaffected, this individual would be termed the {open_quotes}consultand{close_quotes} but would not be a proband. 13 refs.
- OSTI ID:
- 237468
- Journal Information:
- American Journal of Human Genetics, Vol. 57, Issue 4; Other Information: PBD: Oct 1995
- Country of Publication:
- United States
- Language:
- English
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