A proband is
an individual being studied or reported on
. A proband is usually the first affected individual in a family who brings a genetic disorder to the attention of the medical community.
What is a proband and why is it important?
The first person in a family to receive genetic counseling and/or testing for suspected hereditary risk
. A proband may or may not be affected with the disease in question.
What is a proband in a genogram?
Proband:
The person in a family affected with a disease or condition that raises suspicion that other family members may have an increased propensity for the same disease
or condition.
How do I find my proband?
Begin
by drawing a solid square (male) or circle (female) for the first person with disease who presented to medical attention
. This individual is called the proband. Place an arrow on the lower left corner of this individual to indicate he/she is the proband.
Why is a proband important?
Denoting the proband is important, so
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.
What is proband only?
Exome sequencing
analyzes the protein-coding regions of genes
. Exome sequencing is useful for individuals with complex medical histories or who have previously had negative genetic testing. Exome analysis is available as a reflex test for any of our panels.
What is a proband sample?
Proband:
The family member through whom a family’s medical history comes to attention
. For example, a proband might be a baby with Down syndrome. The proband may also be called the index case, propositus (if male), or proposita (if female).
How do you know if a pedigree is dominant or recessive?
Determine whether the trait is dominant or recessive.
If the trait is dominant, one of the parents must have the trait
. Dominant traits will not skip a generation. If the trait is recessive, neither parent is required to have the trait since they can be heterozygous.
Which pair of relatives represents a first degree relationship?
A first degree relative is a family member who shares about 50 percent of their genes with a particular individual in a family. First degree relatives include
parents, offspring, and siblings
.
What is the meaning of Propositus?
Propositus:
The initial subject presenting a mental or physical disorder
, who causes a study of his or her heredity in order to determine if other members of the family have had the same disease or carry it. Also called index case and proband.
What is a proband study?
A proband is
an individual being studied or reported on
. A proband is usually the first affected individual in a family who brings a genetic disorder to the attention of the medical community.
What is Consultand?
(kon-SUL-tand)
An individual who presents for genetic counseling
.
What is the meaning of pedigreed?
adjective.
having established purebred ancestry
: a pedigreed collie.
What do the symbols mean in a pedigree?
In human genetics, pedigree diagrams are
utilized to trace the inheritance of a specific trait, abnormality, or disease
. A male is represented by a square or the symbol ♂, a female by a circle or the symbol ♀. … Siblings not shown as individual symbols are indicated by a number within a large symbol for each sex.
What is an autosomal trait?
The word autosome refers to the non-sex chromosomes. In humans, those are Chromosomes 1 through 22. So an autosomal trait is one that
occurs due to a mutation on Chromosomes 1 through 22
. Dominant means that you only need one copy of a mutation in order to be effective.
How is exome sequencing done?
Exome sequencing contains two main processes, namely target-enrichment and sequencing. Target-enrichment is
to select and capture exome from DNA samples
. There are two major methods to achieve the enrichment of exome. Array-based exome enrichment uses probes bound to high-density microarrays to capture exome.
