Trisomy 22: Difference between revisions
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{{Infobox medical condition | |||
| name = Trisomy 22 | |||
| image = [[File:Human_male_karyotpe_high_resolution_-_Chromosome_22_cropped.png|alt=Chromosome 22]] | |||
| caption = Chromosome 22 | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[congenital heart defects]], [[facial dysmorphism]] | |||
| onset = Prenatal | |||
| duration = Lifelong | |||
| causes = [[Chromosomal abnormality]] | |||
| risks = Advanced maternal age | |||
| diagnosis = [[Karyotype]] analysis | |||
| differential = [[Down syndrome]], [[Edwards syndrome]], [[Patau syndrome]] | |||
| treatment = Supportive care | |||
| frequency = Rare | |||
}} | |||
{{Short description|A chromosomal disorder involving an extra chromosome 22}} | {{Short description|A chromosomal disorder involving an extra chromosome 22}} | ||
'''Trisomy 22''' is a chromosomal disorder in which there are three copies of [[chromosome 22]] instead of the usual two. This condition can lead to a variety of developmental and physical abnormalities. | '''Trisomy 22''' is a chromosomal disorder in which there are three copies of [[chromosome 22]] instead of the usual two. This condition can lead to a variety of developmental and physical abnormalities. | ||
==Presentation== | ==Presentation== | ||
Trisomy 22 can manifest in several forms, including full trisomy 22, mosaic trisomy 22, and partial trisomy 22. Each form has distinct characteristics and outcomes. | Trisomy 22 can manifest in several forms, including full trisomy 22, mosaic trisomy 22, and partial trisomy 22. Each form has distinct characteristics and outcomes. | ||
===Full Trisomy 22=== | ===Full Trisomy 22=== | ||
Full trisomy 22 is typically not compatible with life, and most affected pregnancies result in [[miscarriage]]. It is one of the more common chromosomal abnormalities found in miscarriages. | Full trisomy 22 is typically not compatible with life, and most affected pregnancies result in [[miscarriage]]. It is one of the more common chromosomal abnormalities found in miscarriages. | ||
===Mosaic Trisomy 22=== | ===Mosaic Trisomy 22=== | ||
In mosaic trisomy 22, some cells have the extra chromosome while others do not. This can result in a wide range of symptoms, from mild to severe, depending on the proportion of affected cells. | In mosaic trisomy 22, some cells have the extra chromosome while others do not. This can result in a wide range of symptoms, from mild to severe, depending on the proportion of affected cells. | ||
===Partial Trisomy 22=== | ===Partial Trisomy 22=== | ||
Partial trisomy 22 occurs when only a segment of chromosome 22 is present in triplicate. The symptoms and severity depend on the specific segment that is duplicated. | Partial trisomy 22 occurs when only a segment of chromosome 22 is present in triplicate. The symptoms and severity depend on the specific segment that is duplicated. | ||
==Symptoms== | ==Symptoms== | ||
Individuals with trisomy 22 may exhibit a variety of symptoms, including: | Individuals with trisomy 22 may exhibit a variety of symptoms, including: | ||
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* Distinctive facial features | * Distinctive facial features | ||
* Growth retardation | * Growth retardation | ||
==Diagnosis== | ==Diagnosis== | ||
Trisomy 22 is typically diagnosed through [[prenatal testing]] methods such as [[amniocentesis]] or [[chorionic villus sampling]], which can detect chromosomal abnormalities. Postnatal diagnosis may involve a [[karyotype]] analysis to confirm the presence of an extra chromosome 22. | Trisomy 22 is typically diagnosed through [[prenatal testing]] methods such as [[amniocentesis]] or [[chorionic villus sampling]], which can detect chromosomal abnormalities. Postnatal diagnosis may involve a [[karyotype]] analysis to confirm the presence of an extra chromosome 22. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with trisomy 22 varies widely depending on the type and severity of the condition. Full trisomy 22 is usually fatal, while individuals with mosaic or partial trisomy 22 may survive with varying degrees of disability. | The prognosis for individuals with trisomy 22 varies widely depending on the type and severity of the condition. Full trisomy 22 is usually fatal, while individuals with mosaic or partial trisomy 22 may survive with varying degrees of disability. | ||
==Management== | ==Management== | ||
Management of trisomy 22 is supportive and symptomatic, focusing on addressing the specific health issues and developmental needs of the individual. This may involve a team of specialists, including pediatricians, cardiologists, and developmental therapists. | Management of trisomy 22 is supportive and symptomatic, focusing on addressing the specific health issues and developmental needs of the individual. This may involve a team of specialists, including pediatricians, cardiologists, and developmental therapists. | ||
==See also== | |||
== | |||
* [[Chromosomal disorder]] | * [[Chromosomal disorder]] | ||
* [[Karyotype]] | * [[Karyotype]] | ||
* [[Prenatal diagnosis]] | * [[Prenatal diagnosis]] | ||
==References== | ==References== | ||
{{Reflist}} | {{Reflist}} | ||
[[File:Human male karyotpe high resolution - Chromosome 22 cropped.png|left|thumb|Chromosome 22]] | |||
[[File:Human male karyotpe high resolution - Chromosome 22 cropped.png|thumb | |||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Chromosomal abnormalities]] | [[Category:Chromosomal abnormalities]] | ||
{{stub}} | |||
Latest revision as of 23:19, 6 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 22 | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, intellectual disability, congenital heart defects, facial dysmorphism |
| Complications | N/A |
| Onset | Prenatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Chromosomal abnormality |
| Risks | Advanced maternal age |
| Diagnosis | Karyotype analysis |
| Differential diagnosis | Down syndrome, Edwards syndrome, Patau syndrome |
| Prevention | N/A |
| Treatment | Supportive care |
| Medication | N/A |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | N/A |
A chromosomal disorder involving an extra chromosome 22
Trisomy 22 is a chromosomal disorder in which there are three copies of chromosome 22 instead of the usual two. This condition can lead to a variety of developmental and physical abnormalities.
Presentation[edit]
Trisomy 22 can manifest in several forms, including full trisomy 22, mosaic trisomy 22, and partial trisomy 22. Each form has distinct characteristics and outcomes.
Full Trisomy 22[edit]
Full trisomy 22 is typically not compatible with life, and most affected pregnancies result in miscarriage. It is one of the more common chromosomal abnormalities found in miscarriages.
Mosaic Trisomy 22[edit]
In mosaic trisomy 22, some cells have the extra chromosome while others do not. This can result in a wide range of symptoms, from mild to severe, depending on the proportion of affected cells.
Partial Trisomy 22[edit]
Partial trisomy 22 occurs when only a segment of chromosome 22 is present in triplicate. The symptoms and severity depend on the specific segment that is duplicated.
Symptoms[edit]
Individuals with trisomy 22 may exhibit a variety of symptoms, including:
- Developmental delays
- Intellectual disability
- Congenital heart defects
- Distinctive facial features
- Growth retardation
Diagnosis[edit]
Trisomy 22 is typically diagnosed through prenatal testing methods such as amniocentesis or chorionic villus sampling, which can detect chromosomal abnormalities. Postnatal diagnosis may involve a karyotype analysis to confirm the presence of an extra chromosome 22.
Prognosis[edit]
The prognosis for individuals with trisomy 22 varies widely depending on the type and severity of the condition. Full trisomy 22 is usually fatal, while individuals with mosaic or partial trisomy 22 may survive with varying degrees of disability.
Management[edit]
Management of trisomy 22 is supportive and symptomatic, focusing on addressing the specific health issues and developmental needs of the individual. This may involve a team of specialists, including pediatricians, cardiologists, and developmental therapists.
See also[edit]
References[edit]
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