About 17q24.2 microdeletion syndrome

What is 17q24.2 microdeletion syndrome?

17q24.2 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 a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, and behavioral problems. Other features may include seizures, heart defects, and vision and hearing problems.

What are the symptoms of 17q24.2 microdeletion syndrome?

The symptoms of 17q24.2 microdeletion syndrome can vary from person to person, but may include:

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

What are the causes of 17q24.2 microdeletion syndrome?

17q24.2 microdeletion syndrome is caused by a deletion of genetic material on the long arm of chromosome 17. This deletion is usually inherited from a parent, but can also occur spontaneously.

What are the treatments for 17q24.2 microdeletion syndrome?

Treatment for 17q24.2 microdeletion syndrome is based on the individual's symptoms and can include physical, occupational, and speech therapy, as well as medications to help manage any associated medical conditions. Other treatments may include special education services, behavior therapy, and genetic counseling.

What are the risk factors for 17q24.2 microdeletion syndrome?

1. Advanced maternal age
2. Family history of 17q24.2 microdeletion syndrome
3. Chromosomal abnormalities
4. Maternal exposure to certain medications or environmental toxins
5. Maternal diabetes or obesity
6. Maternal infection during pregnancy
7. Advanced paternal age
8. Unbalanced chromosomal rearrangements

Is there a cure/medications for 17q24.2 microdeletion syndrome?

At this time, there is no cure for 17q24.2 microdeletion syndrome. However, there are medications and therapies that can help manage the symptoms associated with the condition. These 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 skills.