About 17q23.1q23.2 microdeletion syndrome

What is 17q23.1q23.2 microdeletion syndrome?

17q23.1q23.2 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 17. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Common features include low muscle tone, seizures, heart defects, and vision and hearing problems.

What are the symptoms of 17q23.1q23.2 microdeletion syndrome?

The symptoms of 17q23.1q23.2 microdeletion syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Speech and language delays
-Growth delays
-Seizures
-Behavioral problems
-Autism spectrum disorder
-Feeding difficulties
-Heart defects
-Kidney abnormalities
-Cleft lip and/or palate
-Hearing loss
-Vision problems
-Cognitive impairment
-Gastrointestinal issues
-Skeletal abnormalities

What are the causes of 17q23.1q23.2 microdeletion syndrome?

17q23.1q23.2 microdeletion syndrome is caused by a deletion of genetic material from a specific region of chromosome 17. This deletion is usually inherited from a parent, but can also occur spontaneously. The exact cause of the deletion is unknown, but it is thought to be due to a random error in cell division.

What are the treatments for 17q23.1q23.2 microdeletion syndrome?

Treatment for 17q23.1q23.2 microdeletion syndrome is tailored to the individual and may include physical, occupational, and speech therapy; medications to manage seizures, anxiety, and other symptoms; and surgery to correct physical abnormalities. Other treatments may include dietary modifications, genetic counseling, and psychological support.

What are the risk factors for 17q23.1q23.2 microdeletion syndrome?

1. Advanced maternal age
2. Family history of chromosomal abnormalities
3. Abnormal prenatal screening results
4. Abnormal ultrasound findings
5. Abnormal amniocentesis results
6. Abnormal karyotype results
7. Maternal exposure to certain medications or environmental toxins

Is there a cure/medications for 17q23.1q23.2 microdeletion syndrome?

At this time, there is no cure for 17q23.1q23.2 microdeletion syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include medications to help with seizures, physical and occupational therapy to help with motor skills, speech therapy to help with communication, and behavioral therapy to help with social and emotional development.