Isodicentric 15: Difference between revisions
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{{Infobox medical condition | |||
| name = Isodicentric 15 | |||
| image = [[File:Isodicentric_Chromosome_15_from_GM20556.png|alt=Isodicentric Chromosome 15]] | |||
| caption = Isodicentric Chromosome 15 | |||
| synonyms = Idic(15), inv dup(15) | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[autism spectrum disorder]], [[seizures]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Chromosomal analysis]], [[genetic testing]] | |||
| differential = [[Angelman syndrome]], [[Prader-Willi syndrome]] | |||
| treatment = [[Supportive care]], [[therapy]] | |||
| prognosis = [[Variable]] | |||
| frequency = 1 in 30,000 live births | |||
}} | |||
[[File:Dup15q_EEG_signature.png|Dup15q EEG signature|thumb|left]] | |||
'''Isodicentric 15''' (also known as '''idic(15)''', '''partial tetrasomy 15q''', or '''inverted duplication 15''') is a [[genetic disorder]] caused by the presence of an extra chromosome 15, or part of it, which is mirrored on both sides of the centromere. This condition is a type of [[chromosomal abnormality]] known as a [[chromosome duplication]]. | '''Isodicentric 15''' (also known as '''idic(15)''', '''partial tetrasomy 15q''', or '''inverted duplication 15''') is a [[genetic disorder]] caused by the presence of an extra chromosome 15, or part of it, which is mirrored on both sides of the centromere. This condition is a type of [[chromosomal abnormality]] known as a [[chromosome duplication]]. | ||
==Symptoms and Signs== | ==Symptoms and Signs== | ||
The symptoms of Isodicentric 15 can vary widely among affected individuals. Common symptoms include [[intellectual disability]], [[developmental delay]], [[autism spectrum disorder]], [[seizures]], and [[behavioral problems]]. Some individuals may also have physical abnormalities such as unusual facial features, [[short stature]], and [[skeletal abnormalities]]. | The symptoms of Isodicentric 15 can vary widely among affected individuals. Common symptoms include [[intellectual disability]], [[developmental delay]], [[autism spectrum disorder]], [[seizures]], and [[behavioral problems]]. Some individuals may also have physical abnormalities such as unusual facial features, [[short stature]], and [[skeletal abnormalities]]. | ||
==Causes== | ==Causes== | ||
Isodicentric 15 is caused by a duplication of a portion of chromosome 15. This duplication occurs during the formation of reproductive cells ([[meiosis]]) or in early embryonic development. The exact reason why this duplication occurs is not known. | Isodicentric 15 is caused by a duplication of a portion of chromosome 15. This duplication occurs during the formation of reproductive cells ([[meiosis]]) or in early embryonic development. The exact reason why this duplication occurs is not known. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Isodicentric 15 is typically made through [[genetic testing]], which can identify the presence of the extra chromosome 15. This testing can be done through [[blood tests]], [[amniocentesis]], or [[chorionic villus sampling]]. | Diagnosis of Isodicentric 15 is typically made through [[genetic testing]], which can identify the presence of the extra chromosome 15. This testing can be done through [[blood tests]], [[amniocentesis]], or [[chorionic villus sampling]]. | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for Isodicentric 15. Treatment is focused on managing the symptoms and improving the quality of life for affected individuals. This may include [[physical therapy]], [[occupational therapy]], [[speech therapy]], and [[behavioral therapy]]. Medications may also be used to manage seizures and other symptoms. | There is currently no cure for Isodicentric 15. Treatment is focused on managing the symptoms and improving the quality of life for affected individuals. This may include [[physical therapy]], [[occupational therapy]], [[speech therapy]], and [[behavioral therapy]]. Medications may also be used to manage seizures and other symptoms. | ||
==See Also== | ==See Also== | ||
* [[Chromosome 15 (human)]] | * [[Chromosome 15 (human)]] | ||
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* [[Autism spectrum disorder]] | * [[Autism spectrum disorder]] | ||
* [[Seizures]] | * [[Seizures]] | ||
==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 04:02, 9 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
| Isodicentric 15 | |
|---|---|
| |
| Synonyms | Idic(15), inv dup(15) |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, intellectual disability, autism spectrum disorder, seizures |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Chromosomal analysis, genetic testing |
| Differential diagnosis | Angelman syndrome, Prader-Willi syndrome |
| Prevention | N/A |
| Treatment | Supportive care, therapy |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | 1 in 30,000 live births |
| Deaths | N/A |
Isodicentric 15 (also known as idic(15), partial tetrasomy 15q, or inverted duplication 15) is a genetic disorder caused by the presence of an extra chromosome 15, or part of it, which is mirrored on both sides of the centromere. This condition is a type of chromosomal abnormality known as a chromosome duplication.
Symptoms and Signs[edit]
The symptoms of Isodicentric 15 can vary widely among affected individuals. Common symptoms include intellectual disability, developmental delay, autism spectrum disorder, seizures, and behavioral problems. Some individuals may also have physical abnormalities such as unusual facial features, short stature, and skeletal abnormalities.
Causes[edit]
Isodicentric 15 is caused by a duplication of a portion of chromosome 15. This duplication occurs during the formation of reproductive cells (meiosis) or in early embryonic development. The exact reason why this duplication occurs is not known.
Diagnosis[edit]
Diagnosis of Isodicentric 15 is typically made through genetic testing, which can identify the presence of the extra chromosome 15. This testing can be done through blood tests, amniocentesis, or chorionic villus sampling.
Treatment[edit]
There is currently no cure for Isodicentric 15. Treatment is focused on managing the symptoms and improving the quality of life for affected individuals. This may include physical therapy, occupational therapy, speech therapy, and behavioral therapy. Medications may also be used to manage seizures and other symptoms.
See Also[edit]
References[edit]
<references />
