10q26 deletion

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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10q26 deletion syndrome
Synonyms	Distal 10q deletion syndrome
Pronounce
Specialty	Medical genetics
Symptoms	Developmental delay, intellectual disability, congenital heart defects, craniofacial abnormalities
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Genetic testing, chromosomal microarray analysis
Differential diagnosis	Other chromosomal deletion syndromes
Prevention
Treatment	Supportive care, speech therapy, physical therapy
Medication
Prognosis	Varies depending on severity
Frequency	Rare
Deaths	N/A

Genetic disorder caused by deletion of part of chromosome 10

10q26 deletion is a rare genetic disorder caused by the deletion of a segment on the long arm (q arm) of chromosome 10. This deletion can lead to a variety of developmental and physical abnormalities, depending on the size and location of the deletion.

Genetic Basis

The 10q26 deletion involves the loss of genetic material from the distal end of the q arm of chromosome 10. The specific region affected is known as 10q26, which includes several important genes that are crucial for normal development. The deletion can occur de novo, meaning it is a new mutation in the affected individual, or it can be inherited from a parent who carries a balanced translocation or other chromosomal rearrangement.

Clinical Features

Individuals with 10q26 deletion may present with a range of clinical features, which can vary widely in severity. Common features include:

• Developmental delay: Many affected individuals experience delays in reaching developmental milestones such as walking and talking.
• Intellectual disability: The degree of intellectual disability can range from mild to severe.
• Facial dysmorphism: Characteristic facial features may include a broad forehead, deep-set eyes, and a flat nasal bridge.
• Congenital anomalies: These may include heart defects, kidney abnormalities, and skeletal anomalies.
• Growth retardation: Some individuals may have growth delays, resulting in shorter stature.

Diagnosis

Diagnosis of 10q26 deletion is typically made through genetic testing, such as chromosomal microarray analysis or karyotyping. These tests can identify the specific chromosomal deletion and help determine its size and the genes involved.

Management

Management of 10q26 deletion is symptomatic and supportive. It often involves a multidisciplinary approach, including:

• Early intervention programs: To address developmental delays and provide therapies such as speech, occupational, and physical therapy.
• Regular medical evaluations: To monitor growth, development, and any associated health issues.
• Special education services: To support learning and educational needs.

Prognosis

The prognosis for individuals with 10q26 deletion varies depending on the size of the deletion and the specific genes affected. Early diagnosis and intervention can improve outcomes by addressing developmental and medical needs promptly.

See Also

• Chromosome 10
• Genetic disorder
• Chromosomal deletion
• Developmental delay