Ring chromosome 15

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Ring chromosome 15
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Growth retardation, developmental delay, intellectual disability, microcephaly, facial dysmorphism
Complications	Seizures, congenital heart defects
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Parental chromosomal rearrangement
Diagnosis	Karyotype analysis, genetic testing
Differential diagnosis	Other chromosomal disorders
Prevention	N/A
Treatment	Supportive care, symptomatic treatment
Medication	N/A
Prognosis	Variable, depends on severity
Frequency	Rare
Deaths	N/A

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Telomere

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Ring chromosome 15 is a rare human chromosomal abnormality where the two arms of chromosome 15 have fused to form a ring. This condition is characterized by developmental delay, growth retardation, and characteristic facial features.

Characteristics

Individuals with ring chromosome 15 often exhibit developmental delays, growth retardation, and characteristic facial features. These features may include a small head (microcephaly), a prominent nose, a thin upper lip, and a small jaw (micrognathia). Other features can include heart defects, kidney abnormalities, and seizures.

Causes

Ring chromosome 15 is caused by a deletion in the short (p) and long (q) arms of chromosome 15. This deletion results in the formation of a ring chromosome. The size of the deletion varies among affected individuals and can influence the severity of the condition.

Diagnosis

Diagnosis of ring chromosome 15 is typically made through genetic testing, which can identify the characteristic ring structure of the chromosome. This testing can be done through a blood sample.

Treatment

There is currently no cure for ring chromosome 15. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and complications of the condition. This can include physical therapy for developmental delays, medication for seizures, and surgery for heart or kidney abnormalities.

See also

• Chromosome abnormality
• Chromosome 15 (human)

References

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