What are the other Names for this Condition? (Also known as/Synonyms)
- 8p Deletion Syndrome
- 8p Monosomy Syndrome
- Partial Monosomy 8p Syndrome
What is Chromosome 8p Deletion Syndrome? (Definition/Background Information)
- Chromosome 8p Deletion Syndrome is a chromosome abnormality that affects many different parts of the body
- People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell
- The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved
- Most cases are not inherited, although affected people can pass the deletion on to their children
- The treatment of Chromosome 8p Deletion Syndrome is based on the signs and symptoms present in each person
(Source: Chromosome 8p Deletion Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
Who gets Chromosome 8p Deletion Syndrome? (Age and Sex Distribution)
- Chromosome 8p Deletion Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
- Both males and females may be affected
- Worldwide, individuals of all racial and ethnic groups may be affected
What are the Risk Factors for Chromosome 8p Deletion Syndrome? (Predisposing Factors)
- A positive family history may be an important risk factor, since Chromosome 8p Deletion Syndrome can be inherited
- Currently, no other risk factors have been clearly identified for the syndrome
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of Chromosome 8p Deletion Syndrome? (Etiology)
The causes of Chromosome 8p Deletion Syndrome may include the following:
- A de-novo deletion of genetic material in the short arm (p) of chromosome 8, which is the most common reason for the disorder
- Rarely, inheritance of the condition from a parent
What are the Signs and Symptoms of Chromosome 8p Deletion Syndrome?
The signs and symptoms of Chromosome 8p Deletion Syndrome are determined by the amount of genetic material deleted and the genes in the deleted region. The signs and symptoms of Chromosome 8p Deletion Syndrome may vary among affected individuals in type and severity, and include:
- Distinctive facial features
- Developmental delay
- Intellectual deficiency
- Behavioral problems
How is Chromosome 8p Deletion Syndrome Diagnosed?
Chromosome 8p Deletion Syndrome is diagnosed on the basis of the following information:
- Complete physical examination
- Thorough medical history evaluation
- Assessment of signs and symptoms
- Laboratory tests
- Imaging studies
- Biopsy studies, if necessary
- Chromosomal analysis of cells from the developing fetus
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
What are the possible Complications of Chromosome 8p Deletion Syndrome?
The complications of Chromosome 8p Deletion Syndrome may include:
- Severe intellectual deficiency
- Inappropriate or violent behavior
- Physical abnormalities that can cause difficulties in day-to-day living
Complications may occur with or without treatment, and in some cases, due to treatment also.
How is Chromosome 8p Deletion Syndrome Treated?
There is no cure for Chromosome 8p Deletion Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.
How can Chromosome 8p Deletion Syndrome be Prevented?
Chromosome 8p Deletion Syndrome may not be preventable, since it is a genetic disorder.
- Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
- If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
- Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
- Regular medical screening at periodic intervals with tests and physical examinations are recommended
What is the Prognosis of Chromosome 8p Deletion Syndrome? (Outcomes/Resolutions)
- The prognosis of Chromosome 8p Deletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
- Individuals with mild conditions have better prognosis than those with severe symptoms and complications
- Typically, the prognosis may be assessed on a case-by-case basis
Additional and Relevant Useful Information for Chromosome 8p Deletion Syndrome:
The following DoveMed website link is a useful resource for additional information: