proband


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Related to proband: propositus, consultand

proband

[′prō‚band]
(genetics)
The clinically affected individual through whom a family is found that can be used to study the genetics of a particular disorder. Also known as propositius.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
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Twelve (24%) of the probands who were classified as having a negative family history were able to give a detailed family history where there was no history of any relatives with cardiac disease or unexplained cardiac deaths, and the proband appeared to be the first and only case of IDCM in the pedigree.
In each family three probands were selected which included hypodontia affected individual with one sibling and one of parents, either mother or father.
Interphase and metaphase FISH analyses on peripheral blood lymphocytes, obtained from the patient and her parents, were performed using standard cytogenetic methods, to confirm the 1q deletion in the proband, which was also found to be maternally inherited.
Coenzyme Q[sub]10 monooxygenase 6 expression is downregulated in both the kidney tissues and blood samples of the proband
Based on our experience, identification of the underlined mutation in the index proband helped us to provide genetic counseling to her relatives.
This seems strange too--unless, of course, the goal is to give clerics a chance to let the ordeal iron cool before the proband handles it.
The proband (individual II: 2) was a 29-year-old woman who presented typical marfanoid cardiovascular features, facial features, and arachnodactyly, but without ectopia lentis.
Congenital aural atresia described with this partial monosomy was not seen in Proband 3.
Caption: Figure 1: Pedigree chart of the proband with affected family members.
The imaging data of the proband's uncle (III1) showed that the spine was prone to scoliosis.
We used WES to investigate both for variations in retinal dystrophy genes in each proband and for genes commonly mutated in the 3 affected individuals.