In medical genetics and other medical fields, a proband, propositus (male proband), or proposita (female proband) [1] is a particular subject (human or other animal) being studied or reported on. [2] . On pedigrees, the proband is noted with a square (male) or …

2025年2月1日 · A proband is an individual who is affected by a genetic condition or who is concerned they are at risk. Usually, the proband is the first person in a family who brings the concern of a genetic disorder to the attention of healthcare professionals. Proband.

(PROH-band) The first individual in a family to be identified as possibly having a genetic disorder or condition.

The meaning of PROBAND is an individual affected with a disorder who is the first subject in a study (as of a genetic character in a family lineage).

The identification and analysis of probands can enhance genetic testing processes, leading to better data collection techniques. Furthermore, understanding the implications of findings associated with probands aids researchers in comprehending genetic disorders and their impact on family genetics.

The term proband is one of several terms used to indicate the first member of a family who has contact with the doctor or researchers in a study. Sometimes the proband is someone who has the inherited characteristic that is being studied, as is the case for Nick in Figure 1.8.

human genetics The patient or member of the family that brings a family under study. The presenting patient of a group with an identical or similar disorder, especially the member of a family first found to have an inheritable disorder. Also known as propositus.

Identifying the proband is essential in genetic studies because they help researchers understand how a genetic disorder may be passed down through generations. In pedigree analysis, the health status of relatives of the proband is documented to assess potential hereditary risks or patterns.

In the present study, we assessed differences in uptake of cascade testing between relatives of probands who received indication-based diagnostic genetic testing and relatives of probands who received proactive, non-indication-based screening for genes associated with HCS or FH.

2023年4月12日 · In a remarkable study notable for its scale (>13,500 families of probands), scope (all branches of pediatric clinical practice), and implementation in clinical practice, the Deciphering ...