ATR-16 syndrome

A genetic disorder caused by a deletion on chromosome 16

ATR-16 syndrome is a rare genetic disorder characterized by a deletion of genetic material on the short arm of chromosome 16. This deletion can lead to a variety of clinical features, including intellectual disability, developmental delay, and distinctive facial features. The syndrome is named after the "alpha thalassemia/mental retardation" phenotype associated with the chromosomal deletion.

Genetic Basis

ATR-16 syndrome is caused by a deletion on the short arm of chromosome 16, specifically at the 16p13.3 region. This deletion often includes the HBA1 and HBA2 genes, which are responsible for the production of alpha-globin chains. The loss of these genes can lead to alpha thalassemia, a blood disorder characterized by reduced production of hemoglobin.

Clinical Features

Individuals with ATR-16 syndrome may present with a range of clinical features, including:

• Intellectual disability
• Developmental delay
• Distinctive facial features, such as a broad nasal bridge and epicanthic folds
• Alpha thalassemia, which can cause mild anemia
• Microcephaly
• Seizures

The severity of symptoms can vary widely among affected individuals, depending on the size and location of the chromosomal deletion.

Diagnosis

Diagnosis of ATR-16 syndrome typically involves genetic testing to identify deletions on chromosome 16. Techniques such as fluorescence in situ hybridization (FISH) or comparative genomic hybridization (CGH) can be used to detect these deletions. Clinical evaluation and family history are also important components of the diagnostic process.

Management

Management of ATR-16 syndrome is symptomatic and supportive. Treatment may involve:

• Educational support and special education services for intellectual disability
• Speech and occupational therapy
• Regular monitoring and treatment of anemia associated with alpha thalassemia
• Seizure management with antiepileptic medications

Prognosis

The prognosis for individuals with ATR-16 syndrome varies depending on the severity of symptoms and the presence of associated conditions. Early intervention and supportive therapies can improve outcomes and quality of life for affected individuals.

Related pages

• Chromosome 16
• Alpha thalassemia
• Intellectual disability
• Genetic disorder

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  Human male karyotype high resolution - Chromosome 16 cropped