Ring chromosome 14 syndrome: Difference between revisions
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[[File:NLM_ring_chromosome.jpg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Ring chromosome 14 syndrome | |||
| image = [[File:NLM_ring_chromosome.jpg|left|thumb|Ring chromosome]] | |||
| caption = A ring chromosome, similar to the one seen in ring chromosome 14 syndrome | |||
| synonyms = [[Ring 14]], [[Ring chromosome 14]] | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Seizures]], [[developmental delay]], [[intellectual disability]], [[microcephaly]], [[hypotonia]], [[retinal abnormalities]] | |||
| complications = [[Epilepsy]], [[behavioral problems]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Cytogenetic analysis]], [[karyotyping]] | |||
| differential = [[Other chromosomal disorders]] | |||
| prevention = [[Genetic counseling]] | |||
| treatment = [[Anticonvulsants]], [[supportive care]] | |||
| medication = [[Antiepileptic drugs]] | |||
| prognosis = [[Variable]], depends on severity | |||
| frequency = [[Rare]] | |||
}} | |||
'''Ring chromosome 14 syndrome''' is a rare genetic disorder characterized by the presence of a ring-shaped chromosome 14. This chromosomal abnormality can lead to a variety of clinical manifestations, including developmental delays, intellectual disabilities, and distinctive physical features. | |||
==Genetics== | ==Genetics== | ||
Ring chromosome 14 syndrome occurs when chromosome 14 forms a ring structure due to the fusion of its ends. This can result in the loss of genetic material, which may disrupt normal development and function. The condition is typically not inherited but arises de novo, meaning it occurs as a new mutation in the affected individual. | Ring chromosome 14 syndrome occurs when chromosome 14 forms a ring structure due to the fusion of its ends. This can result in the loss of genetic material, which may disrupt normal development and function. The condition is typically not inherited but arises de novo, meaning it occurs as a new mutation in the affected individual. | ||
==Clinical Features== | ==Clinical Features== | ||
Individuals with ring chromosome 14 syndrome may exhibit a range of symptoms, including: | Individuals with ring chromosome 14 syndrome may exhibit a range of symptoms, including: | ||
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* [[Hypotonia]] (reduced muscle tone) | * [[Hypotonia]] (reduced muscle tone) | ||
* [[Microcephaly]] (small head size) | * [[Microcephaly]] (small head size) | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of ring chromosome 14 syndrome is typically made through genetic testing, such as [[karyotyping]] or [[fluorescence in situ hybridization]] (FISH). These tests can identify the presence of the ring chromosome and any associated genetic deletions or duplications. | Diagnosis of ring chromosome 14 syndrome is typically made through genetic testing, such as [[karyotyping]] or [[fluorescence in situ hybridization]] (FISH). These tests can identify the presence of the ring chromosome and any associated genetic deletions or duplications. | ||
==Management== | ==Management== | ||
There is no cure for ring chromosome 14 syndrome, and treatment is primarily supportive and symptomatic. Management may include: | There is no cure for ring chromosome 14 syndrome, and treatment is primarily supportive and symptomatic. Management may include: | ||
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* Special education services | * Special education services | ||
* Physical, occupational, and speech therapy | * Physical, occupational, and speech therapy | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with ring chromosome 14 syndrome varies depending on the severity of symptoms and the extent of genetic material loss. With appropriate medical care and support, many individuals can achieve a good quality of life. | The prognosis for individuals with ring chromosome 14 syndrome varies depending on the severity of symptoms and the extent of genetic material loss. With appropriate medical care and support, many individuals can achieve a good quality of life. | ||
==See also== | |||
== | |||
* [[Chromosomal disorder]] | * [[Chromosomal disorder]] | ||
* [[Genetic testing]] | * [[Genetic testing]] | ||
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* [[Seizure disorder]] | * [[Seizure disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Chromosomal abnormalities]] | [[Category:Chromosomal abnormalities]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 18:06, 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
| Ring chromosome 14 syndrome | |
|---|---|
 | |
| Synonyms | Ring 14, Ring chromosome 14 |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Seizures, developmental delay, intellectual disability, microcephaly, hypotonia, retinal abnormalities |
| Complications | Epilepsy, behavioral problems |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Cytogenetic analysis, karyotyping |
| Differential diagnosis | Other chromosomal disorders |
| Prevention | Genetic counseling |
| Treatment | Anticonvulsants, supportive care |
| Medication | Antiepileptic drugs |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | N/A |
Ring chromosome 14 syndrome is a rare genetic disorder characterized by the presence of a ring-shaped chromosome 14. This chromosomal abnormality can lead to a variety of clinical manifestations, including developmental delays, intellectual disabilities, and distinctive physical features.
Genetics[edit]
Ring chromosome 14 syndrome occurs when chromosome 14 forms a ring structure due to the fusion of its ends. This can result in the loss of genetic material, which may disrupt normal development and function. The condition is typically not inherited but arises de novo, meaning it occurs as a new mutation in the affected individual.
Clinical Features[edit]
Individuals with ring chromosome 14 syndrome may exhibit a range of symptoms, including:
- Developmental delay
- Intellectual disability
- Seizures
- Distinctive facial features such as a broad nasal bridge, epicanthal folds, and a small jaw
- Growth retardation
- Hypotonia (reduced muscle tone)
- Microcephaly (small head size)
Diagnosis[edit]
Diagnosis of ring chromosome 14 syndrome is typically made through genetic testing, such as karyotyping or fluorescence in situ hybridization (FISH). These tests can identify the presence of the ring chromosome and any associated genetic deletions or duplications.
Management[edit]
There is no cure for ring chromosome 14 syndrome, and treatment is primarily supportive and symptomatic. Management may include:
- Antiepileptic drugs for seizure control
- Early intervention programs for developmental delays
- Special education services
- Physical, occupational, and speech therapy
Prognosis[edit]
The prognosis for individuals with ring chromosome 14 syndrome varies depending on the severity of symptoms and the extent of genetic material loss. With appropriate medical care and support, many individuals can achieve a good quality of life.
See also[edit]
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