Patau's trisomy syndrome, also known as trisomy 13, is a genetic disorder caused by a chromosomal abnormality. It is caused by the presence of an extra chromosome 13 in the cells of the body. This syndrome is a rare condition that affects around 1 in every 10,000 live births. It is a life-limiting condition and most affected infants do not survive beyond the first few days of life.
Symptoms of Patau's Trisomy Syndrome
Patau's trisomy syndrome can cause a wide range of symptoms, ranging from physical abnormalities to mental and developmental delays. Physical symptoms may include:
• Low birth weight
• Cleft lip or palate
• Brain malformations
• Abnormal facial features, such as a small head and abnormally shaped eyes
• Poor muscle tone
• Cardiac defects
• Kidney anomalies
• Abnormalities of the hands and feet
• Respiratory problems
Mental and developmental delays associated with Patau's trisomy syndrome include:
• Intellectual disability
• Delays in reaching developmental milestones, such as sitting, crawling, and walking
• Seizures
• Poor vision
• Hearing loss
Diagnosis of Patau's Trisomy Syndrome
Patau's trisomy syndrome is usually diagnosed before birth, using tests such as amniocentesis or chorionic villus sampling. These tests look for extra chromosomes in the cells of the fetus. After birth, further tests such as a physical examination, ultrasound, and genetic testing can be used to confirm the diagnosis.
Treatment of Patau's Trisomy Syndrome
Patau's trisomy syndrome is a life-limiting condition, and there is no cure. Treatment focuses on managing the symptoms and providing supportive care. This may include medications, physical and occupational therapy, and specialized education. Parents and caregivers may also receive counseling and support.