Ring chromosome 14 syndrome

NLM ring chromosome

Ring chromosome 14 syndrome is a rare genetic disorder characterized by the presence of a ring-shaped chromosome 14. This chromosomal abnormality can lead to a variety of clinical manifestations, including developmental delays, intellectual disabilities, and distinctive physical features.

Genetics

Ring chromosome 14 syndrome occurs when chromosome 14 forms a ring structure due to the fusion of its ends. This can result in the loss of genetic material, which may disrupt normal development and function. The condition is typically not inherited but arises de novo, meaning it occurs as a new mutation in the affected individual.

Clinical Features

Individuals with ring chromosome 14 syndrome may exhibit a range of symptoms, including:

• Developmental delay
• Intellectual disability
• Seizures
• Distinctive facial features such as a broad nasal bridge, epicanthal folds, and a small jaw
• Growth retardation
• Hypotonia (reduced muscle tone)
• Microcephaly (small head size)

Diagnosis

Diagnosis of ring chromosome 14 syndrome is typically made through genetic testing, such as karyotyping or fluorescence in situ hybridization (FISH). These tests can identify the presence of the ring chromosome and any associated genetic deletions or duplications.

Management

There is no cure for ring chromosome 14 syndrome, and treatment is primarily supportive and symptomatic. Management may include:

• Antiepileptic drugs for seizure control
• Early intervention programs for developmental delays
• Special education services
• Physical, occupational, and speech therapy

Prognosis

The prognosis for individuals with ring chromosome 14 syndrome varies depending on the severity of symptoms and the extent of genetic material loss. With appropriate medical care and support, many individuals can achieve a good quality of life.

Related Pages

• Chromosomal disorder
• Genetic testing
• Developmental delay
• Intellectual disability
• Seizure disorder

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