Chromosome 2, monosomy 2q37

Detailed information about Chromosome 2, monosomy 2q37

Chromosome 2, monosomy 2q37
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, intellectual disability, distinctive facial features
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Deletion of genetic material on chromosome 2
Risks
Diagnosis	Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic and supportive
Medication	N/A
Prognosis	Varies
Frequency	N/A
Deaths	N/A

Chromosome 2, monosomy 2q37 is a rare genetic disorder characterized by the deletion of a segment of the long arm (q) of chromosome 2. This condition can lead to a variety of clinical features, including developmental delay, intellectual disability, and distinctive facial features.

Genetic Basis

Chromosome 2 is one of the 23 pairs of human chromosomes. It is the second largest human chromosome, spanning more than 242 million base pairs and representing almost 8% of the total DNA in cells. Monosomy 2q37 occurs when there is a deletion of genetic material at the end of the long arm of chromosome 2, specifically at the 2q37 region.

The deletion can vary in size, and the specific genes that are lost can influence the severity and range of symptoms. The deletion is usually de novo, meaning it occurs as a new mutation in the affected individual and is not inherited from the parents.

Clinical Features

Individuals with monosomy 2q37 may present with a range of symptoms, which can include:

• Developmental delay and intellectual disability
• Distinctive facial features such as a broad forehead, flat nasal bridge, and thin upper lip
• Short stature
• Brachydactyly (short fingers and toes)
• Hypotonia (reduced muscle tone)
• Behavioral problems
• Seizures

The severity of these symptoms can vary widely among affected individuals.

Diagnosis

Diagnosis of monosomy 2q37 is typically made through genetic testing, such as chromosomal microarray analysis or karyotyping, which can identify the deletion on chromosome 2. Prenatal diagnosis is possible if there is a known risk, such as a previous child with the condition.

Management

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

• Early intervention programs and special education to address developmental delays
• Physical therapy to improve muscle tone and motor skills
• Behavioral therapy to manage behavioral issues
• Regular monitoring and treatment of associated medical conditions, such as seizures

Prognosis

The prognosis for individuals with monosomy 2q37 varies depending on the size of the deletion and the specific symptoms present. With appropriate support and interventions, many individuals can lead fulfilling lives.

Also see

• Chromosome 2
• Chromosomal deletion
• Genetic disorder
• Intellectual disability