Chromosome 1, 1p36 deletion syndrome

Genetic disorder caused by deletion of part of chromosome 1

1p36 deletion syndrome
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Intellectual disability, developmental delay, distinctive facial features
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Deletion of part of chromosome 1
Risks	Genetic
Diagnosis	Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care
Medication	N/A
Prognosis	N/A
Frequency	N/A
Deaths	N/A

1p36 deletion syndrome is a genetic disorder caused by the deletion of a segment of chromosome 1. This condition is characterized by a variety of physical, developmental, and intellectual disabilities. The deletion occurs at the terminal end of the short arm of chromosome 1, specifically at the 1p36 region.

Genetics

Chromosome 1 is the largest human chromosome, containing approximately 249 million base pairs and about 2,000 to 2,100 genes. The "p" in 1p36 refers to the short arm of the chromosome, while "36" indicates the specific band where the deletion occurs. The deletion can vary in size, and the larger the deletion, the more severe the symptoms tend to be.

1p36 deletion syndrome is typically not inherited but occurs as a de novo event, meaning it happens spontaneously during the formation of reproductive cells or in early fetal development. However, in rare cases, it can be inherited from a parent who carries a balanced translocation.

Clinical Features

Individuals with 1p36 deletion syndrome often present with a range of clinical features, including:

• Intellectual disability and developmental delay
• Distinctive facial features such as a flat nasal bridge, deep-set eyes, and a pointed chin
• Hypotonia (low muscle tone)
• Seizures
• Hearing loss
• Heart defects
• Behavioral problems

Diagnosis

Diagnosis of 1p36 deletion syndrome is confirmed through genetic testing, such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH), which can detect the deletion on chromosome 1.

Management

There is no cure for 1p36 deletion syndrome, and treatment focuses on managing symptoms and providing supportive care. This may include:

• Early intervention programs and special education
• Physical, occupational, and speech therapy
• Medications to control seizures
• Regular monitoring and treatment of heart defects and other medical issues

Prognosis

The prognosis for individuals with 1p36 deletion syndrome varies depending on the size of the deletion and the severity of symptoms. With appropriate support and interventions, many individuals can lead fulfilling lives.

Also see

• Chromosome 1
• Genetic disorders
• Chromosomal deletion
• Developmental delay