Which are the symptoms of Trisomy 17p?

Trisomy 17p is a rare chromosomal disorder that occurs when there is an extra copy of the short arm of chromosome 17. This genetic abnormality can lead to a wide range of symptoms and developmental delays. It is important to note that the severity and specific symptoms can vary from person to person.

Physical Symptoms:

• Distinct facial features: Individuals with trisomy 17p may have a characteristic facial appearance, including a prominent forehead, low-set ears, a flat nasal bridge, and a small chin.


• Growth and developmental delays: Children with trisomy 17p often experience delays in physical growth and development. This can manifest as delayed motor skills, speech and language delays, and cognitive impairments.


• Intellectual disability: Many individuals with trisomy 17p have intellectual disabilities of varying degrees. The level of impairment can range from mild to severe.


• Low muscle tone: Hypotonia, or low muscle tone, is commonly observed in individuals with trisomy 17p. This can affect motor skills and coordination.


• Heart defects: Some individuals may have congenital heart defects, such as atrial septal defects or ventricular septal defects.


• Eye abnormalities: Eye problems, including strabismus (crossed eyes), nystagmus (involuntary eye movements), and refractive errors, are frequently seen in individuals with trisomy 17p.


• Seizures: Epileptic seizures can occur in some individuals with this chromosomal disorder.

Behavioral and Psychological Symptoms:

• Behavioral issues: Individuals with trisomy 17p may exhibit behavioral problems, such as hyperactivity, impulsivity, and attention deficits.


• Autistic-like behaviors: Some individuals may display characteristics similar to autism spectrum disorders, including social and communication difficulties, repetitive behaviors, and restricted interests.


• Anxiety and mood disorders: Anxiety, depression, and other mood disorders can be present in individuals with trisomy 17p.

Other Possible Symptoms:

• Feeding difficulties: Infants with trisomy 17p may have difficulties with feeding and may require specialized feeding techniques or assistance.


• Recurrent infections: Some individuals may be more prone to infections, particularly respiratory infections.


• Skeletal abnormalities: Skeletal anomalies, such as scoliosis (curvature of the spine) or joint abnormalities, can be observed in some cases.


• Delayed puberty: Adolescents with trisomy 17p may experience delayed onset of puberty.

It is important to consult with a healthcare professional for a proper diagnosis and management of trisomy 17p. Genetic testing, physical examinations, and developmental assessments are typically conducted to evaluate the presence of this chromosomal disorder. Early intervention and supportive therapies, such as physical therapy, speech therapy, and educational interventions, can help individuals with trisomy 17p reach their full potential and improve their quality of life.