Trisomy 8: Difference between revisions

Revision as of 12:01, 9 February 2025

Genetic disorder involving an extra chromosome 8

Trisomy 8, also known as Warkany syndrome 2, is a genetic disorder caused by the presence of an extra chromosome 8 in some or all of the body's cells. This condition is a type of aneuploidy, which is a deviation from the normal number of chromosomes.

Presentation

Individuals with trisomy 8 may exhibit a range of phenotypic features, although the severity and specific characteristics can vary widely. Common features include distinctive facial features, such as a prominent forehead, deep-set eyes, and thick lips. Other possible manifestations include skeletal abnormalities, such as joint contractures and scoliosis, as well as renal and cardiac anomalies.

Genetics

Trisomy 8 is typically caused by a nondisjunction event during meiosis, leading to an extra copy of chromosome 8 in the affected individual's cells. This can result in a mosaic pattern, where some cells have the normal two copies of chromosome 8, while others have three. The degree of mosaicism can influence the severity of the condition.

Diagnosis

Diagnosis of trisomy 8 is usually confirmed through karyotyping, which can detect the presence of an extra chromosome 8. Prenatal diagnosis may be possible through amniocentesis or chorionic villus sampling.

Management

There is no cure for trisomy 8, and treatment is generally supportive and symptomatic. Management may involve a multidisciplinary approach, including pediatricians, geneticists, and other specialists to address specific health issues and developmental needs.

Prognosis

The prognosis for individuals with trisomy 8 varies depending on the extent of the chromosomal abnormality and the presence of associated health issues. Some individuals may lead relatively normal lives, while others may experience significant health challenges.

Epidemiology

Trisomy 8 is a rare condition, with its exact prevalence not well established. It is more commonly observed in mosaicism form than in full trisomy.

Related pages

References

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-'''Trisomy 8''' is a [[chromosomal disorder]] characterized by the presence of an extra copy of [[chromosome 8]] in the cells of an individual. This condition can occur in a mosaic form, where some cells have the normal number of chromosomes and others have an extra chromosome 8, known as '''[[Mosaic Trisomy 8]]'''.
+{{Short description|Genetic disorder involving an extra chromosome 8}}
+{{Use dmy dates|date=October 2023}}
-==Symptoms and Diagnosis==
+[[File:Chromosome_8.svg|thumb|right|Diagram of Chromosome 8]]
-The symptoms of Trisomy 8 vary widely among affected individuals, depending on the proportion of cells that carry the extra chromosome. Common symptoms include [[growth delay]], distinctive facial features, [[intellectual disability]], and various physical abnormalities.
+'''Trisomy 8''', also known as '''Warkany syndrome 2''', is a [[genetic disorder]] caused by the presence of an extra [[chromosome 8]] in some or all of the body's cells. This condition is a type of [[aneuploidy]], which is a deviation from the normal number of chromosomes.
-Diagnosis of Trisomy 8 is typically made through [[genetic testing]], including [[karyotyping]] and [[fluorescence in situ hybridization]] (FISH). These tests can identify the presence of an extra chromosome 8 in the cells.
+==Presentation==
+Individuals with trisomy 8 may exhibit a range of [[phenotypic]] features, although the severity and specific characteristics can vary widely. Common features include distinctive facial features, such as a prominent forehead, deep-set eyes, and thick lips. Other possible manifestations include [[skeletal abnormalities]], such as joint contractures and [[scoliosis]], as well as [[renal]] and [[cardiac]] anomalies.
-==Causes and Risk Factors==
+==Genetics==
+Trisomy 8 is typically caused by a [[nondisjunction]] event during [[meiosis]], leading to an extra copy of chromosome 8 in the affected individual's cells. This can result in a [[mosaic]] pattern, where some cells have the normal two copies of chromosome 8, while others have three. The degree of mosaicism can influence the severity of the condition.
-Trisomy 8 is caused by a random error in [[cell division]] that leads to the creation of an extra chromosome 8. This error can occur during the formation of reproductive cells ([[gametes]]) or after fertilization. The exact reason why this error occurs is not known.
+==Diagnosis==
+Diagnosis of trisomy 8 is usually confirmed through [[karyotyping]], which can detect the presence of an extra chromosome 8. [[Prenatal diagnosis]] may be possible through [[amniocentesis]] or [[chorionic villus sampling]].
-Risk factors for Trisomy 8 are not well understood. However, it has been suggested that advanced maternal age may increase the risk of having a child with this condition.
+==Management==
+There is no cure for trisomy 8, and treatment is generally supportive and symptomatic. Management may involve a multidisciplinary approach, including [[pediatricians]], [[geneticists]], and other specialists to address specific health issues and developmental needs.
-==Treatment and Management==
-There is no cure for Trisomy 8, and treatment is focused on managing the symptoms and improving the quality of life of the affected individual. This may involve [[physical therapy]], [[occupational therapy]], and [[speech therapy]], as well as medical management of physical abnormalities.
 ==Prognosis==
+The prognosis for individuals with trisomy 8 varies depending on the extent of the chromosomal abnormality and the presence of associated health issues. Some individuals may lead relatively normal lives, while others may experience significant health challenges.
-The prognosis for individuals with Trisomy 8 varies widely, depending on the severity of symptoms and the proportion of cells that carry the extra chromosome. Some individuals with this condition live into adulthood, while others may have a shortened lifespan due to complications associated with the disorder.
+==Epidemiology==
+Trisomy 8 is a rare condition, with its exact prevalence not well established. It is more commonly observed in [[mosaicism]] form than in full trisomy.
-==See Also==
+==Related pages==
+* [[Chromosome 8]]
+* [[Aneuploidy]]
+* [[Genetic disorder]]
-* [[Chromosomal abnormalities]]
+==References==
-* [[Genetic disorders]]
+{{Reflist}}
-* [[Mosaic Trisomy 8]]
 [[Category:Genetic disorders]]
 [[Category:Chromosomal abnormalities]]
-{{genetics-stub}}
-{{medicine-stub}}