Isodicentric 15

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(Redirected from Non-telomeric tetrasomy 15q)

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Isodicentric 15
Isodicentric Chromosome 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


Dup15q EEG signature

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

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

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 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

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

References

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Contributors: Prab R. Tumpati, MD