Trisomy 9: Difference between revisions
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{{Infobox medical condition | |||
| name = Trisomy 9 | |||
| image = [[File:Chromosome_9.svg|150px]] | |||
| caption = Chromosome 9 | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[congenital heart defects]], [[craniofacial abnormalities]], [[skeletal abnormalities]] | |||
| complications = [[Intellectual disability]], [[growth retardation]] | |||
| onset = [[Prenatal]] | |||
| duration = [[Lifelong]] | |||
| types = [[Full trisomy 9]], [[Mosaic trisomy 9]], [[Partial trisomy 9]] | |||
| causes = [[Nondisjunction]] during [[meiosis]] | |||
| risks = Advanced [[maternal age]] | |||
| diagnosis = [[Karyotype]] analysis, [[prenatal screening]] | |||
| differential = [[Trisomy 13]], [[Trisomy 18]] | |||
| treatment = Supportive care, [[surgery]] for congenital defects | |||
| prognosis = Variable, often poor in full trisomy 9 | |||
| frequency = Rare, estimated at 1 in 20,000 to 1 in 50,000 live births | |||
}} | |||
{{Short description|Overview of Trisomy 9}} | {{Short description|Overview of Trisomy 9}} | ||
'''Trisomy 9''' is a chromosomal disorder caused by the presence of an extra copy of chromosome 9 in some or all of the cells of an individual. This genetic anomaly can lead to a variety of developmental and physical abnormalities. Trisomy 9 can occur in a full form, where all cells have an extra chromosome 9, or in a mosaic form, where only some cells have the extra chromosome. | '''Trisomy 9''' is a chromosomal disorder caused by the presence of an extra copy of chromosome 9 in some or all of the cells of an individual. This genetic anomaly can lead to a variety of developmental and physical abnormalities. Trisomy 9 can occur in a full form, where all cells have an extra chromosome 9, or in a mosaic form, where only some cells have the extra chromosome. | ||
==Genetics== | ==Genetics== | ||
Trisomy 9 is a result of nondisjunction during [[meiosis]], which leads to an extra chromosome 9 in the [[zygote]]. This can occur in either the sperm or the egg. The presence of an extra chromosome disrupts normal development and can lead to a range of symptoms and health issues. | Trisomy 9 is a result of nondisjunction during [[meiosis]], which leads to an extra chromosome 9 in the [[zygote]]. This can occur in either the sperm or the egg. The presence of an extra chromosome disrupts normal development and can lead to a range of symptoms and health issues. | ||
==Clinical Features== | ==Clinical Features== | ||
Individuals with Trisomy 9 may exhibit a variety of clinical features, which can include: | Individuals with Trisomy 9 may exhibit a variety of clinical features, which can include: | ||
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* [[Skeletal abnormalities]] | * [[Skeletal abnormalities]] | ||
* [[Developmental delay]] and intellectual disability | * [[Developmental delay]] and intellectual disability | ||
==Diagnosis== | ==Diagnosis== | ||
Trisomy 9 is typically diagnosed through [[karyotyping]], which can identify the presence of an extra chromosome 9. Prenatal diagnosis is possible through procedures such as [[amniocentesis]] or [[chorionic villus sampling]] (CVS). | Trisomy 9 is typically diagnosed through [[karyotyping]], which can identify the presence of an extra chromosome 9. Prenatal diagnosis is possible through procedures such as [[amniocentesis]] or [[chorionic villus sampling]] (CVS). | ||
==Management== | ==Management== | ||
There is no cure for Trisomy 9, and management focuses on addressing the symptoms and complications associated with the disorder. This may involve a multidisciplinary approach including: | There is no cure for Trisomy 9, and management focuses on addressing the symptoms and complications associated with the disorder. This may involve a multidisciplinary approach including: | ||
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* [[Orthopedics]] for skeletal issues | * [[Orthopedics]] for skeletal issues | ||
* [[Physical therapy]] and [[occupational therapy]] | * [[Physical therapy]] and [[occupational therapy]] | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Trisomy 9 varies depending on the severity of the condition and the presence of mosaicism. Full Trisomy 9 is often associated with severe complications and a reduced lifespan, while individuals with mosaic Trisomy 9 may have a milder phenotype and a longer life expectancy. | The prognosis for individuals with Trisomy 9 varies depending on the severity of the condition and the presence of mosaicism. Full Trisomy 9 is often associated with severe complications and a reduced lifespan, while individuals with mosaic Trisomy 9 may have a milder phenotype and a longer life expectancy. | ||
==See also== | |||
== | |||
* [[Chromosomal disorder]] | * [[Chromosomal disorder]] | ||
* [[Trisomy]] | * [[Trisomy]] | ||
* [[Genetic counseling]] | * [[Genetic counseling]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Chromosomal abnormalities]] | [[Category:Chromosomal abnormalities]] | ||
Latest revision as of 19:19, 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 9 | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, congenital heart defects, craniofacial abnormalities, skeletal abnormalities |
| Complications | Intellectual disability, growth retardation |
| Onset | Prenatal |
| Duration | Lifelong |
| Types | Full trisomy 9, Mosaic trisomy 9, Partial trisomy 9 |
| Causes | Nondisjunction during meiosis |
| Risks | Advanced maternal age |
| Diagnosis | Karyotype analysis, prenatal screening |
| Differential diagnosis | Trisomy 13, Trisomy 18 |
| Prevention | N/A |
| Treatment | Supportive care, surgery for congenital defects |
| Medication | N/A |
| Prognosis | Variable, often poor in full trisomy 9 |
| Frequency | Rare, estimated at 1 in 20,000 to 1 in 50,000 live births |
| Deaths | N/A |
Overview of Trisomy 9
Trisomy 9 is a chromosomal disorder caused by the presence of an extra copy of chromosome 9 in some or all of the cells of an individual. This genetic anomaly can lead to a variety of developmental and physical abnormalities. Trisomy 9 can occur in a full form, where all cells have an extra chromosome 9, or in a mosaic form, where only some cells have the extra chromosome.
Genetics[edit]
Trisomy 9 is a result of nondisjunction during meiosis, which leads to an extra chromosome 9 in the zygote. This can occur in either the sperm or the egg. The presence of an extra chromosome disrupts normal development and can lead to a range of symptoms and health issues.
Clinical Features[edit]
Individuals with Trisomy 9 may exhibit a variety of clinical features, which can include:
- Growth retardation
- Craniofacial abnormalities such as a small head (microcephaly) and facial asymmetry
- Congenital heart defects
- Skeletal abnormalities
- Developmental delay and intellectual disability
Diagnosis[edit]
Trisomy 9 is typically diagnosed through karyotyping, which can identify the presence of an extra chromosome 9. Prenatal diagnosis is possible through procedures such as amniocentesis or chorionic villus sampling (CVS).
Management[edit]
There is no cure for Trisomy 9, and management focuses on addressing the symptoms and complications associated with the disorder. This may involve a multidisciplinary approach including:
- Pediatric care
- Cardiology for heart defects
- Orthopedics for skeletal issues
- Physical therapy and occupational therapy
Prognosis[edit]
The prognosis for individuals with Trisomy 9 varies depending on the severity of the condition and the presence of mosaicism. Full Trisomy 9 is often associated with severe complications and a reduced lifespan, while individuals with mosaic Trisomy 9 may have a milder phenotype and a longer life expectancy.
