10q26 deletion: Difference between revisions
From WikiMD's Wellness Encyclopedia
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{{Infobox medical condition | |||
| name = 10q26 deletion syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = 10q26 deletion syndrome is often inherited in an [[autosomal dominant]] pattern. | |||
| synonyms = Distal 10q deletion syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[congenital heart defects]], [[craniofacial abnormalities]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[chromosomal microarray analysis]] | |||
| differential = [[Other chromosomal deletion syndromes]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[speech therapy]], [[physical therapy]] | |||
| medication = | |||
| prognosis = Varies depending on severity | |||
| frequency = Rare | |||
}} | |||
{{Short description|Genetic disorder caused by deletion of part of chromosome 10}} | {{Short description|Genetic disorder caused by deletion of part of chromosome 10}} | ||
'''10q26 deletion''' is a rare genetic disorder caused by the deletion of a segment on the long arm (q arm) of [[chromosome 10]]. This deletion can lead to a variety of developmental and physical abnormalities, depending on the size and location of the deletion. | '''10q26 deletion''' is a rare genetic disorder caused by the deletion of a segment on the long arm (q arm) of [[chromosome 10]]. This deletion can lead to a variety of developmental and physical abnormalities, depending on the size and location of the deletion. | ||
== Genetic Basis == | == Genetic Basis == | ||
The 10q26 deletion involves the loss of genetic material from the distal end of the q arm of chromosome 10. The specific region affected is known as 10q26, which includes several important genes that are crucial for normal development. The deletion can occur de novo, meaning it is a new mutation in the affected individual, or it can be inherited from a parent who carries a balanced translocation or other chromosomal rearrangement. | The 10q26 deletion involves the loss of genetic material from the distal end of the q arm of chromosome 10. The specific region affected is known as 10q26, which includes several important genes that are crucial for normal development. The deletion can occur de novo, meaning it is a new mutation in the affected individual, or it can be inherited from a parent who carries a balanced translocation or other chromosomal rearrangement. | ||
== Clinical Features == | == Clinical Features == | ||
Individuals with 10q26 deletion may present with a range of clinical features, which can vary widely in severity. Common features include: | Individuals with 10q26 deletion may present with a range of clinical features, which can vary widely in severity. Common features include: | ||
* '''Developmental delay''': Many affected individuals experience delays in reaching developmental milestones such as walking and talking. | * '''Developmental delay''': Many affected individuals experience delays in reaching developmental milestones such as walking and talking. | ||
* '''Intellectual disability''': The degree of intellectual disability can range from mild to severe. | * '''Intellectual disability''': The degree of intellectual disability can range from mild to severe. | ||
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* '''Congenital anomalies''': These may include heart defects, kidney abnormalities, and skeletal anomalies. | * '''Congenital anomalies''': These may include heart defects, kidney abnormalities, and skeletal anomalies. | ||
* '''Growth retardation''': Some individuals may have growth delays, resulting in shorter stature. | * '''Growth retardation''': Some individuals may have growth delays, resulting in shorter stature. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of 10q26 deletion is typically made through genetic testing, such as [[chromosomal microarray analysis]] or [[karyotyping]]. These tests can identify the specific chromosomal deletion and help determine its size and the genes involved. | Diagnosis of 10q26 deletion is typically made through genetic testing, such as [[chromosomal microarray analysis]] or [[karyotyping]]. These tests can identify the specific chromosomal deletion and help determine its size and the genes involved. | ||
== Management == | == Management == | ||
Management of 10q26 deletion is symptomatic and supportive. It often involves a multidisciplinary approach, including: | Management of 10q26 deletion is symptomatic and supportive. It often involves a multidisciplinary approach, including: | ||
* '''Early intervention programs''': To address developmental delays and provide therapies such as speech, occupational, and physical therapy. | * '''Early intervention programs''': To address developmental delays and provide therapies such as speech, occupational, and physical therapy. | ||
* '''Regular medical evaluations''': To monitor growth, development, and any associated health issues. | * '''Regular medical evaluations''': To monitor growth, development, and any associated health issues. | ||
* '''Special education services''': To support learning and educational needs. | * '''Special education services''': To support learning and educational needs. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with 10q26 deletion varies depending on the size of the deletion and the specific genes affected. Early diagnosis and intervention can improve outcomes by addressing developmental and medical needs promptly. | The prognosis for individuals with 10q26 deletion varies depending on the size of the deletion and the specific genes affected. Early diagnosis and intervention can improve outcomes by addressing developmental and medical needs promptly. | ||
== See Also == | |||
== | |||
* [[Chromosome 10]] | * [[Chromosome 10]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Chromosomal deletion]] | * [[Chromosomal deletion]] | ||
* [[Developmental delay]] | * [[Developmental delay]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Chromosomal abnormalities]] | [[Category:Chromosomal abnormalities]] | ||
Latest revision as of 22:03, 5 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
| 10q26 deletion syndrome | |
|---|---|
| |
| Synonyms | Distal 10q deletion syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Developmental delay, intellectual disability, congenital heart defects, craniofacial abnormalities |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, chromosomal microarray analysis |
| Differential diagnosis | Other chromosomal deletion syndromes |
| Prevention | |
| Treatment | Supportive care, speech therapy, physical therapy |
| Medication | |
| Prognosis | Varies depending on severity |
| Frequency | Rare |
| Deaths | N/A |
Genetic disorder caused by deletion of part of chromosome 10
10q26 deletion is a rare genetic disorder caused by the deletion of a segment on the long arm (q arm) of chromosome 10. This deletion can lead to a variety of developmental and physical abnormalities, depending on the size and location of the deletion.
Genetic Basis[edit]
The 10q26 deletion involves the loss of genetic material from the distal end of the q arm of chromosome 10. The specific region affected is known as 10q26, which includes several important genes that are crucial for normal development. The deletion can occur de novo, meaning it is a new mutation in the affected individual, or it can be inherited from a parent who carries a balanced translocation or other chromosomal rearrangement.
Clinical Features[edit]
Individuals with 10q26 deletion may present with a range of clinical features, which can vary widely in severity. Common features include:
- Developmental delay: Many affected individuals experience delays in reaching developmental milestones such as walking and talking.
- Intellectual disability: The degree of intellectual disability can range from mild to severe.
- Facial dysmorphism: Characteristic facial features may include a broad forehead, deep-set eyes, and a flat nasal bridge.
- Congenital anomalies: These may include heart defects, kidney abnormalities, and skeletal anomalies.
- Growth retardation: Some individuals may have growth delays, resulting in shorter stature.
Diagnosis[edit]
Diagnosis of 10q26 deletion is typically made through genetic testing, such as chromosomal microarray analysis or karyotyping. These tests can identify the specific chromosomal deletion and help determine its size and the genes involved.
Management[edit]
Management of 10q26 deletion is symptomatic and supportive. It often involves a multidisciplinary approach, including:
- Early intervention programs: To address developmental delays and provide therapies such as speech, occupational, and physical therapy.
- Regular medical evaluations: To monitor growth, development, and any associated health issues.
- Special education services: To support learning and educational needs.
Prognosis[edit]
The prognosis for individuals with 10q26 deletion varies depending on the size of the deletion and the specific genes affected. Early diagnosis and intervention can improve outcomes by addressing developmental and medical needs promptly.
