About Trisomy 17p

What is Trisomy 17p?

Trisomy 17p is a rare chromosomal disorder caused by the presence of an extra copy of chromosome 17 in some or all of the cells in the body. It is associated with a wide range of physical and developmental abnormalities, including intellectual disability, growth delays, and facial and heart defects.

What are the symptoms of Trisomy 17p?

The symptoms of Trisomy 17p vary from person to person, but may include:

-Developmental delays
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Heart defects
-Kidney abnormalities
-Cleft lip or palate
-Hearing loss
-Vision problems
-Craniofacial abnormalities
-Cognitive impairments
-Behavioral issues

What are the causes of Trisomy 17p?

Trisomy 17p is caused by an extra copy of the short arm of chromosome 17 (17p). This extra copy is usually due to a random error in cell division during the formation of reproductive cells (eggs or sperm) or in early fetal development. It is not inherited from a parent.

What are the treatments for Trisomy 17p?

Treatment for Trisomy 17p is largely supportive and depends on the individual's symptoms. Treatment may include physical therapy, occupational therapy, speech therapy, and other therapies to help with physical and cognitive development. In some cases, medications may be prescribed to help manage symptoms. Surgery may be recommended to correct certain physical abnormalities. Genetic counseling may also be recommended to help families understand the condition and plan for the future.

What are the risk factors for Trisomy 17p?

The risk factors for Trisomy 17p include advanced maternal age, a family history of chromosomal abnormalities, and a previous pregnancy with a chromosomal abnormality. Other risk factors include a history of infertility, a history of miscarriages, and a history of stillbirths.

Is there a cure/medications for Trisomy 17p?

At this time, there is no cure for Trisomy 17p. However, there are medications that can help manage the symptoms associated with the condition. These medications may include anticonvulsants, antipsychotics, and antidepressants. Additionally, physical and occupational therapy can help improve motor skills and coordination.