Ring chromosome 18: Difference between revisions
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{{Infobox medical condition | |||
| name = Ring chromosome 18 | |||
| image = [[File:Ring_Chromosome_18_2.jpg|alt=Ring chromosome 18]] | |||
| caption = A diagram of ring chromosome 18 | |||
| width = | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[growth retardation]], [[congenital anomalies]] | |||
| complications = | |||
| onset = [[Congenital disorder|Congenital]] | |||
| duration = [[Lifelong]] | |||
| types = | |||
| causes = [[Chromosomal abnormality]] | |||
| risks = | |||
| diagnosis = [[Karyotype analysis]] | |||
| differential = Other [[chromosomal disorders]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[symptomatic treatment]] | |||
| medication = | |||
| prognosis = Variable, depending on the severity of symptoms | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
[[File:VSD_image.jpg|VSD Image|thumb|left]] | |||
[[File:NLM_ring_chromosome.jpg|NLM Ring Chromosome|thumb]] | |||
[[File:Gray733.png|Gray 733|thumb|left]] | |||
'''Ring Chromosome 18''' is a rare human [[chromosomal abnormality]] where the 18th chromosome forms a ring-like structure instead of its usual linear shape. This condition is characterized by developmental delay, intellectual disability, and physical abnormalities. | '''Ring Chromosome 18''' is a rare human [[chromosomal abnormality]] where the 18th chromosome forms a ring-like structure instead of its usual linear shape. This condition is characterized by developmental delay, intellectual disability, and physical abnormalities. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
People with Ring Chromosome 18 often exhibit a variety of symptoms and signs. These can include [[growth retardation]], [[microcephaly]] (small head size), [[hypotonia]] (low muscle tone), and [[facial dysmorphism]] (abnormal facial features). Other possible symptoms include [[heart defects]], [[hearing loss]], and [[vision problems]]. | People with Ring Chromosome 18 often exhibit a variety of symptoms and signs. These can include [[growth retardation]], [[microcephaly]] (small head size), [[hypotonia]] (low muscle tone), and [[facial dysmorphism]] (abnormal facial features). Other possible symptoms include [[heart defects]], [[hearing loss]], and [[vision problems]]. | ||
== Causes == | == Causes == | ||
Ring Chromosome 18 is caused by a structural abnormality in the 18th chromosome. This can occur when a break happens at both ends of the chromosome, and the broken ends join together to form a ring. The exact reason why this happens is not fully understood, but it is believed to occur randomly during the formation of reproductive cells or in early fetal development. | Ring Chromosome 18 is caused by a structural abnormality in the 18th chromosome. This can occur when a break happens at both ends of the chromosome, and the broken ends join together to form a ring. The exact reason why this happens is not fully understood, but it is believed to occur randomly during the formation of reproductive cells or in early fetal development. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Ring Chromosome 18 is typically made through [[genetic testing]], which can identify the ring structure in the 18th chromosome. This can be done through a variety of methods, including [[karyotyping]], [[fluorescence in situ hybridization]] (FISH), and [[comparative genomic hybridization]] (CGH). | Diagnosis of Ring Chromosome 18 is typically made through [[genetic testing]], which can identify the ring structure in the 18th chromosome. This can be done through a variety of methods, including [[karyotyping]], [[fluorescence in situ hybridization]] (FISH), and [[comparative genomic hybridization]] (CGH). | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Ring Chromosome 18. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and improving the quality of life for those affected. This can include [[physical therapy]], [[speech therapy]], and [[occupational therapy]], as well as medical management of any associated health problems. | There is currently no cure for Ring Chromosome 18. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and improving the quality of life for those affected. This can include [[physical therapy]], [[speech therapy]], and [[occupational therapy]], as well as medical management of any associated health problems. | ||
== See Also == | == See Also == | ||
* [[Chromosome abnormality]] | * [[Chromosome abnormality]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Chromosomal translocation]] | * [[Chromosomal translocation]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Chromosomal abnormalities]] | [[Category:Chromosomal abnormalities]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 04:55, 13 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 18 | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, intellectual disability, growth retardation, congenital anomalies |
| Complications | |
| Onset | Congenital |
| Duration | Lifelong |
| Types | |
| Causes | Chromosomal abnormality |
| Risks | |
| Diagnosis | Karyotype analysis |
| Differential diagnosis | Other chromosomal disorders |
| Prevention | |
| Treatment | Supportive care, symptomatic treatment |
| Medication | |
| Prognosis | Variable, depending on the severity of symptoms |
| Frequency | Rare |
| Deaths | |
Ring Chromosome 18 is a rare human chromosomal abnormality where the 18th chromosome forms a ring-like structure instead of its usual linear shape. This condition is characterized by developmental delay, intellectual disability, and physical abnormalities.
Symptoms and Signs[edit]
People with Ring Chromosome 18 often exhibit a variety of symptoms and signs. These can include growth retardation, microcephaly (small head size), hypotonia (low muscle tone), and facial dysmorphism (abnormal facial features). Other possible symptoms include heart defects, hearing loss, and vision problems.
Causes[edit]
Ring Chromosome 18 is caused by a structural abnormality in the 18th chromosome. This can occur when a break happens at both ends of the chromosome, and the broken ends join together to form a ring. The exact reason why this happens is not fully understood, but it is believed to occur randomly during the formation of reproductive cells or in early fetal development.
Diagnosis[edit]
Diagnosis of Ring Chromosome 18 is typically made through genetic testing, which can identify the ring structure in the 18th chromosome. This can be done through a variety of methods, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH).
Treatment[edit]
There is currently no cure for Ring Chromosome 18. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and improving the quality of life for those affected. This can include physical therapy, speech therapy, and occupational therapy, as well as medical management of any associated health problems.
See Also[edit]
References[edit]
<references />
