2q37 monosomy

2q37 Monosomy

Karyotype showing 2q37 monosomy

2q37 monosomy is a rare chromosomal disorder characterized by the deletion of a portion of the long arm (q) of chromosome 2. This condition can lead to a variety of physical, developmental, and intellectual challenges.

Clinical Features

Individuals with 2q37 monosomy may present with a range of clinical features, which can vary widely in severity. Common features include:

• Developmental delay and intellectual disability
• Distinctive facial features such as a prominent forehead, deep-set eyes, and a small chin
• Hypotonia, or decreased muscle tone
• Short stature
• Brachydactyly, or shortening of the fingers and toes
• Congenital heart defects
• Seizures

Genetic Basis

2q37 monosomy results from a deletion of genetic material on the distal end of the long arm of chromosome 2. The size of the deletion can vary, and larger deletions are generally associated with more severe manifestations of the disorder.

Chromosomal Abnormality

The deletion typically involves the region from 2q37.1 to 2q37.3. This region contains several genes that are important for normal development and function. The loss of these genes is believed to contribute to the clinical features observed in affected individuals.

Diagnosis

Diagnosis of 2q37 monosomy is usually confirmed through chromosomal analysis techniques such as karyotyping or fluorescence in situ hybridization (FISH). These tests can identify the specific chromosomal deletion responsible for the disorder.

Management

There is no cure for 2q37 monosomy, and treatment is typically supportive and symptomatic. Management strategies may include:

• Early intervention programs to address developmental delays
• Physical and occupational therapy to improve motor skills
• Educational support tailored to the individual's needs
• Medical management of associated health issues, such as heart defects or seizures

Prognosis

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

Related Pages

• Chromosomal disorder
• Genetic counseling
• Developmental disability