Trisomy 8: Difference between revisions
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{{Infobox medical condition | |||
| name = Trisomy 8 | |||
| image = [[File:Chromosome_8.svg|150px]] | |||
| caption = [[Chromosome 8]] | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[dysmorphic features]], [[congenital heart defects]] | |||
| complications = [[Leukemia]], [[myelodysplastic syndrome]] | |||
| onset = [[Prenatal]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Nondisjunction]] during [[meiosis]] | |||
| risks = Advanced [[maternal age]] | |||
| diagnosis = [[Karyotype]] analysis | |||
| differential = [[Mosaicism]], [[other chromosomal abnormalities]] | |||
| treatment = [[Supportive care]], [[symptomatic treatment]] | |||
| prognosis = Variable, depends on the presence of [[mosaicism]] | |||
| frequency = 1 in 25,000 to 1 in 50,000 live births | |||
}} | |||
{{DISPLAYTITLE:Trisomy 8}} | {{DISPLAYTITLE:Trisomy 8}} | ||
'''Trisomy 8''', also known as '''Warkany syndrome 2''', is a chromosomal 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 refers to an abnormal number of chromosomes. Trisomy 8 can occur in a mosaic form, where some cells have the extra chromosome and others do not, or in a non-mosaic form, where all cells have the extra chromosome. | '''Trisomy 8''', also known as '''Warkany syndrome 2''', is a chromosomal 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 refers to an abnormal number of chromosomes. Trisomy 8 can occur in a mosaic form, where some cells have the extra chromosome and others do not, or in a non-mosaic form, where all cells have the extra chromosome. | ||
== Clinical Features == | == Clinical Features == | ||
Individuals with trisomy 8 may exhibit a variety of clinical features, which can vary widely in severity. Common characteristics include: | Individuals with trisomy 8 may exhibit a variety of clinical features, which can vary widely in severity. Common characteristics include: | ||
* Distinctive facial features such as deep-set eyes, prominent forehead, and broad nasal bridge. | * Distinctive facial features such as deep-set eyes, prominent forehead, and broad nasal bridge. | ||
* Musculoskeletal abnormalities, including joint contractures and scoliosis. | * Musculoskeletal abnormalities, including joint contractures and scoliosis. | ||
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* Renal anomalies. | * Renal anomalies. | ||
* Gastrointestinal issues, such as [[Hirschsprung's disease]]. | * Gastrointestinal issues, such as [[Hirschsprung's disease]]. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of trisomy 8 is typically made through [[karyotyping]], a laboratory procedure that examines the number and structure of chromosomes in cells. In cases of mosaic trisomy 8, a skin biopsy may be performed to detect the presence of the extra chromosome in fibroblasts. | The diagnosis of trisomy 8 is typically made through [[karyotyping]], a laboratory procedure that examines the number and structure of chromosomes in cells. In cases of mosaic trisomy 8, a skin biopsy may be performed to detect the presence of the extra chromosome in fibroblasts. | ||
== Genetic Mechanism == | == Genetic Mechanism == | ||
Trisomy 8 is usually the result of nondisjunction during [[meiosis]], the process by which gametes (sperm and egg cells) are formed. This error leads to the production of gametes with an abnormal number of chromosomes. When such a gamete is involved in fertilization, the resulting zygote may have an extra chromosome 8. | Trisomy 8 is usually the result of nondisjunction during [[meiosis]], the process by which gametes (sperm and egg cells) are formed. This error leads to the production of gametes with an abnormal number of chromosomes. When such a gamete is involved in fertilization, the resulting zygote may have an extra chromosome 8. | ||
== Management == | == Management == | ||
There is no cure for trisomy 8, and treatment is focused on managing the symptoms and complications associated with the condition. This may involve: | There is no cure for trisomy 8, and treatment is focused on managing the symptoms and complications associated with the condition. This may involve: | ||
* Regular monitoring and treatment of heart defects. | * Regular monitoring and treatment of heart defects. | ||
* Physical therapy to address musculoskeletal issues. | * Physical therapy to address musculoskeletal issues. | ||
* Special education services to support intellectual development. | * Special education services to support intellectual development. | ||
* Surgical interventions for gastrointestinal or renal anomalies. | * Surgical interventions for gastrointestinal or renal anomalies. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with trisomy 8 varies depending on the severity of the symptoms and the presence of mosaicism. Those with mosaic trisomy 8 may have a milder phenotype and a better overall prognosis compared to those with non-mosaic trisomy 8. | The prognosis for individuals with trisomy 8 varies depending on the severity of the symptoms and the presence of mosaicism. Those with mosaic trisomy 8 may have a milder phenotype and a better overall prognosis compared to those with non-mosaic trisomy 8. | ||
== See also == | |||
== | |||
* [[Chromosome 8]] | * [[Chromosome 8]] | ||
* [[Aneuploidy]] | * [[Aneuploidy]] | ||
* [[Karyotype]] | * [[Karyotype]] | ||
* [[Mosaicism]] | * [[Mosaicism]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Chromosomal abnormalities]] | [[Category:Chromosomal abnormalities]] | ||
Latest revision as of 19:29, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Trisomy 8 | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, intellectual disability, dysmorphic features, congenital heart defects |
| Complications | Leukemia, myelodysplastic syndrome |
| Onset | Prenatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Nondisjunction during meiosis |
| Risks | Advanced maternal age |
| Diagnosis | Karyotype analysis |
| Differential diagnosis | Mosaicism, other chromosomal abnormalities |
| Prevention | N/A |
| Treatment | Supportive care, symptomatic treatment |
| Medication | N/A |
| Prognosis | Variable, depends on the presence of mosaicism |
| Frequency | 1 in 25,000 to 1 in 50,000 live births |
| Deaths | N/A |
Trisomy 8, also known as Warkany syndrome 2, is a chromosomal 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 refers to an abnormal number of chromosomes. Trisomy 8 can occur in a mosaic form, where some cells have the extra chromosome and others do not, or in a non-mosaic form, where all cells have the extra chromosome.
Clinical Features[edit]
Individuals with trisomy 8 may exhibit a variety of clinical features, which can vary widely in severity. Common characteristics include:
- Distinctive facial features such as deep-set eyes, prominent forehead, and broad nasal bridge.
- Musculoskeletal abnormalities, including joint contractures and scoliosis.
- Intellectual disability, which can range from mild to severe.
- Congenital heart defects.
- Renal anomalies.
- Gastrointestinal issues, such as Hirschsprung's disease.
Diagnosis[edit]
The diagnosis of trisomy 8 is typically made through karyotyping, a laboratory procedure that examines the number and structure of chromosomes in cells. In cases of mosaic trisomy 8, a skin biopsy may be performed to detect the presence of the extra chromosome in fibroblasts.
Genetic Mechanism[edit]
Trisomy 8 is usually the result of nondisjunction during meiosis, the process by which gametes (sperm and egg cells) are formed. This error leads to the production of gametes with an abnormal number of chromosomes. When such a gamete is involved in fertilization, the resulting zygote may have an extra chromosome 8.
Management[edit]
There is no cure for trisomy 8, and treatment is focused on managing the symptoms and complications associated with the condition. This may involve:
- Regular monitoring and treatment of heart defects.
- Physical therapy to address musculoskeletal issues.
- Special education services to support intellectual development.
- Surgical interventions for gastrointestinal or renal anomalies.
Prognosis[edit]
The prognosis for individuals with trisomy 8 varies depending on the severity of the symptoms and the presence of mosaicism. Those with mosaic trisomy 8 may have a milder phenotype and a better overall prognosis compared to those with non-mosaic trisomy 8.
