proband , także: propositus

The pedigree for this proband is shown in Figure 3.

It is important to denote the proband, so that the relationship to other individuals can be seen and patterns established.

In most cases, the proband is the first affected family member who seeks medical attention for a genetic disorder.

The results confirmed the presence of T3197C polymorphism in both mother and the proband.

Neither the proband's mother nor any of the other patients was found to carry this mutation (Figure 2A).

When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low.

Cardiomyopathy attributable to iron overload was not diagnosed in any proband.

Of note, the proband reported an improvement in her fatigue symptoms after pacer implantation.

Other family members of a proband.

On pedigrees, the proband is noted with an arrow and the box (male) or circle (female) shaded accordingly.

Then the measurement is conducted by counting the number of times (within a given period of time), a proband performs the typical acts.

If probands have had more than one ischemic stroke, the most recent is the proband index stroke.

The term proband is also used in genealogy, where it denotes the root node of an Ahnentafel.

Offspring of a proband are obligate heterozygotes and will therefore carry one mutant allele.

A proband who has:

Thus it is likely that the C598T mutation is not responsible for the myopathic phenotype of the proband.

Clinical database For each proband, we collect name, date of birth, gender, race, home address, home phone number, e-mail address, and alternative contact information.

The proband has developed a clinical course characterized by increasing tolerance to fasting and illness without further episodes of metabolic decompensation.

A remarkable finding was the novel 568-573 insCCCCC, present in both mother and proband.

Conduction disease preceded the development of dilated cardiomyopathy in the proband's family [ 1 10 ] .

Physical examination A general physical examination of the proband may identify associated craniofacial, musculoskeletal, or visceral malformations that could indicate a particular syndrome.

Expressed concern about cancer in third-degree relatives, or relatives farther removed, was about the same as that for first- or second-degree relatives of the proband.

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.

A clinical and cytogenetic description of the proband with PWS and type II OCA is given in ref. 21.

Siblings of a proband: The risk to siblings depends on the genetic status of the parent, which can be clarified by pedigree analysis and/or DNA-based testing.