1q21.1 duplication syndrome: Difference between revisions
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{{Short description|A genetic disorder caused by duplication of a region on chromosome 1}} | {{Short description|A genetic disorder caused by duplication of a region on chromosome 1}} | ||
{{Genetic | {{Infobox medical condition | ||
| name = 1q21.1 duplication syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = 1q21.1 duplication syndrome is inherited in an [[autosomal dominant]] manner | |||
| synonyms = 1q21.1 microduplication | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[autism spectrum disorder]], [[congenital heart defects]], [[schizophrenia]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Genetic testing]], [[chromosomal microarray analysis]] | |||
| differential = [[1q21.1 deletion syndrome]], other [[chromosomal abnormalities]] | |||
| treatment = [[Supportive care]], [[special education]], [[therapy]] | |||
| prognosis = [[Variable]] | |||
| frequency = 1 in 3,000 to 1 in 5,000 | |||
}} | |||
[[File:Relation_1q21_1.jpg|1q21.1 duplication syndrome|thumb|left]] | |||
'''1q21.1 duplication syndrome''' is a [[genetic disorder]] caused by the duplication of a small region on the long arm of [[chromosome 1]]. This condition is associated with a variety of clinical features, which can vary widely among affected individuals. | '''1q21.1 duplication syndrome''' is a [[genetic disorder]] caused by the duplication of a small region on the long arm of [[chromosome 1]]. This condition is associated with a variety of clinical features, which can vary widely among affected individuals. | ||
==Genetics== | ==Genetics== | ||
1q21.1 duplication syndrome is characterized by the presence of an extra copy of a segment of genetic material on chromosome 1, specifically at the 1q21.1 location. This duplication can be inherited in an [[autosomal dominant]] manner, meaning that a single copy of the duplicated region is sufficient to cause the disorder. However, the condition can also occur de novo, meaning it arises spontaneously without being inherited from a parent. | 1q21.1 duplication syndrome is characterized by the presence of an extra copy of a segment of genetic material on chromosome 1, specifically at the 1q21.1 location. This duplication can be inherited in an [[autosomal dominant]] manner, meaning that a single copy of the duplicated region is sufficient to cause the disorder. However, the condition can also occur de novo, meaning it arises spontaneously without being inherited from a parent. | ||
==Clinical Features== | ==Clinical Features== | ||
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* [[Autosomal dominant]] | * [[Autosomal dominant]] | ||
* [[Chromosomal microarray analysis]] | * [[Chromosomal microarray analysis]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Chromosomal abnormalities]] | [[Category:Chromosomal abnormalities]] | ||
{{genetics-stub}} | |||
Latest revision as of 03:05, 25 March 2025
A genetic disorder caused by duplication of a region on chromosome 1
| 1q21.1 duplication syndrome | |
|---|---|
| |
| Synonyms | 1q21.1 microduplication |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, intellectual disability, autism spectrum disorder, congenital heart defects, schizophrenia |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Genetic testing, chromosomal microarray analysis |
| Differential diagnosis | 1q21.1 deletion syndrome, other chromosomal abnormalities |
| Prevention | N/A |
| Treatment | Supportive care, special education, therapy |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | 1 in 3,000 to 1 in 5,000 |
| Deaths | N/A |
1q21.1 duplication syndrome is a genetic disorder caused by the duplication of a small region on the long arm of chromosome 1. This condition is associated with a variety of clinical features, which can vary widely among affected individuals.
Genetics[edit]
1q21.1 duplication syndrome is characterized by the presence of an extra copy of a segment of genetic material on chromosome 1, specifically at the 1q21.1 location. This duplication can be inherited in an autosomal dominant manner, meaning that a single copy of the duplicated region is sufficient to cause the disorder. However, the condition can also occur de novo, meaning it arises spontaneously without being inherited from a parent.
Clinical Features[edit]
The clinical presentation of 1q21.1 duplication syndrome is highly variable. Some individuals with the duplication may be asymptomatic, while others may exhibit a range of symptoms. Common features include:
- Developmental delay
- Intellectual disability
- Autism spectrum disorder
- Congenital heart defects
- Microcephaly or macrocephaly
- Seizures
Diagnosis[edit]
Diagnosis of 1q21.1 duplication syndrome is typically made using genetic testing methods such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH). These tests can identify the presence of the duplicated region on chromosome 1.
Management[edit]
There is no cure for 1q21.1 duplication syndrome, and treatment is generally supportive and symptomatic. Management may involve:
- Early intervention programs for developmental delays
- Special education services
- Speech therapy, occupational therapy, and physical therapy
- Medical management of associated conditions such as seizures or heart defects
Prognosis[edit]
The prognosis for individuals with 1q21.1 duplication syndrome varies depending on the severity of symptoms and associated conditions. Some individuals may lead relatively normal lives, while others may require ongoing medical and educational support.
Related pages[edit]
