Ring chromosome 14 syndrome

Ring chromosome 14 syndrome

Ring chromosome 14 syndrome (pronunciation: ring kroh-muh-sohm fohr-teen sin-drohm) is a rare genetic disorder characterized by distinct clinical features.

Etymology

The term "Ring chromosome 14 syndrome" is derived from the unique chromosomal abnormality that defines this condition. The chromosome 14 in some cells forms a ring (ring chromosome), instead of the usual linear shape.

Definition

Ring chromosome 14 syndrome is a condition that affects the neurological system. Individuals with this condition often have intellectual disability, recurrent seizures (Epilepsy), and distinctive facial features.

Symptoms

The most common symptoms of Ring chromosome 14 syndrome include:

• Intellectual disability
• Recurrent seizures
• Distinctive facial features
• Delayed development
• Vision problems
• Sleep disturbances

Causes

Ring chromosome 14 syndrome is caused by a specific chromosomal abnormality. In affected individuals, one of the two copies of chromosome 14 in each cell forms a ring (ring chromosome). This ring formation is likely caused by breakages and reunions of the chromosome in a way that forms a ring.

Diagnosis

Diagnosis of Ring chromosome 14 syndrome is based on clinical examination, patient history, and confirmed through genetic testing. The genetic test involves a blood sample and the use of a technique called Fluorescent in situ hybridization (FISH) to identify the ring chromosome.

Treatment

There is currently no cure for Ring chromosome 14 syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms of each patient. This may include antiepileptic drugs for seizures, physical therapy for developmental delays, and special education services for intellectual disability.

Related Terms

• Chromosome
• Genetic disorder
• Epilepsy
• Fluorescent in situ hybridization

External links

• Medical encyclopedia article on Ring chromosome 14 syndrome
• Wikipedia's article - Ring chromosome 14 syndrome

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