propositus

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Related to proband: propositus, consultand
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  • noun

Words related to propositus

the person immediately affected by or concerned with an action

References in periodicals archive ?
The proband was a 19-year-old male who presented with diffuse goiter, nervousness, and palpitations that have persisted for approximately 5 years.
Researchers were unable to interview parents without knowledge of family history and proband diagnosis.
These studies also report that the proband group completed less schooling and had significantly lower occupational rankings.
Inclusion as a proband required a prorated Verbal IQ (proVIQ) of at least 90 ([is greater than or equal to] 25th %tile), a discrepancy of at least one standard deviation between the proVIQ and the score on one or more reading or writing measure in a screening battery, and performance on the measure below the population mean.
Once a putative 'family' mutation is identified in the proband, testing of other members of the family can be performed cheaply by targeting a specific region of the gene with PCR, RE or sequencing analysis.
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
The most cost-effective approach is to first test and identify the mutation in the proband, permitting targeted testing specific for the mutation in at-risk relatives.
Based on their clinical description, I would not consider the proband as thalassemia intermedia, as until 20 years of age he did not require blood transfusions (1).
When the investigators considered the proband families, they found significant relationships between the number of affected parents and the number of affected siblings.
Once the familial mutation is known, other family members can be tested for the same mutation at much less cost than was required on the proband.
Family history "any": This term was used to indicate the presence of asthma in any one or more of the family members of the asthmatic proband.
In a landmark year for Proband it has been revolutionising the provision of ICT goods and services to local authorities and schools with its on-line IT procurement portal, theitindex.
The proband in this family suffered from another rare illness, ie, Sertoli cell only syndrome.
Thus far, the current study has enrolled 49 families, and includes 16 probands with fibromyalgia; 5 male and 11 female proband siblings; 23 female, pain-free, control individuals; and 8 male and 15 female control siblings.