2q37 deletion syndrome

A genetic disorder caused by the deletion of a segment on chromosome 2

2q37 deletion syndrome is a rare genetic disorder characterized by the deletion of a segment on the long arm (q) of chromosome 2. This condition is associated with a variety of physical, developmental, and behavioral features.

Genetics

2q37 deletion syndrome is caused by a deletion of genetic material on chromosome 2 at the q37 location. The size of the deletion can vary among affected individuals, which contributes to the variability in symptoms and severity. The deletion can occur de novo or be inherited in an autosomal dominant manner.

Inheritance pattern of an autosomal dominant disorder.

Clinical Features

Individuals with 2q37 deletion syndrome may present with a range of clinical features, including:

• Developmental delay: Many affected individuals experience delays in reaching developmental milestones, such as sitting, walking, and talking.
• Intellectual disability: The degree of intellectual disability can vary from mild to severe.
• Behavioral issues: Some individuals may exhibit behavioral problems, including autism spectrum disorder-like behaviors.
• Distinctive facial features: These may include a prominent forehead, a flat nasal bridge, and a thin upper lip.
• Skeletal abnormalities: Such as brachydactyly (short fingers and toes) and other bone malformations.
• Obesity: A tendency towards obesity is common in individuals with this syndrome.

Diagnosis

Diagnosis of 2q37 deletion syndrome is typically made through genetic testing, such as chromosomal microarray analysis or karyotyping, which can identify the deletion on chromosome 2.

Management

There is no cure for 2q37 deletion syndrome, and treatment is symptomatic and supportive. Management may involve:

• Early intervention programs: To address developmental delays and improve skills.
• Special education services: Tailored to the individual's needs.
• Behavioral therapy: To manage behavioral issues and improve social skills.
• Regular monitoring: By a multidisciplinary team to address any emerging health concerns.

Prognosis

The prognosis for individuals with 2q37 deletion syndrome varies depending on the severity of symptoms and the presence of associated health issues. With appropriate support and interventions, many individuals can lead fulfilling lives.

Related pages

• Chromosome 2
• Genetic disorder
• Autosomal dominant
• Intellectual disability

Gallery

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  Inheritance pattern of an autosomal dominant disorder.