Physical Address
304 North Cardinal St.
Dorchester Center, MA 02124
Patau syndrome, also known as trisomy 13, is a rare genetic disorder that results from the presence of an extra chromosome 13 in the body’s cells.
It is a condition that has serious consequences for the health and development of the affected person. In this article, we will take a closer look at Patau syndrome, its symptoms, causes, diagnostic options and available treatment methods.
What is Patau syndrome?
Patau syndrome, also called trisomy 13, is a rare genetic disorder that occurs when the affected person’s body cells have three copies of chromosome 13 instead of two. This excess chromosome leads to many developmental defects and serious health problems.
Patau syndrome – symptoms
Symptoms of Patau syndrome can be very diverse and affect many systems and organs. The most common symptoms include:
- Congenital heart defects
- Cleft of the palate or lip
- Underdevelopment of the eyes (anopia or microphthalmia)
- Brain underdevelopment
- Kidney structure defects
- High risk of infection
- Slower mental development
Symptoms may vary in severity and often depend on the individual case.
Patau syndrome – causes
Patau syndrome is caused by the presence of excess chromosome 13 in the body’s cells. This chromosomal disorder is usually the result of an error during cell division, which leads to the formation of an extra chromosome 13. This can occur in both the mother’s egg cells and the father’s sperm cells.
Is Patau’s syndrome visible on ultrasound?
Yes, Patau’s syndrome can usually be noticed during a prenatal ultrasound (USG) examination. Your doctor may identify certain characteristics of this disorder, such as developmental defects, congenital heart defects, or abnormalities in brain structure. This allows for early diagnosis of Patau syndrome, which is important for medical care planning and parents’ decisions.
Is Patau syndrome hereditary?
Patau syndrome is not usually hereditary in the traditional way. It is a random genetic mutation that occurs spontaneously during the division of egg or sperm cells. The risk of developing this disorder does not increase with the age of the mother or father, but it does increase in parents who have previously had a child with Patau syndrome.
Your suggestions
If you suspect your child has symptoms of Patau syndrome or have questions about the condition, consult your doctor. Diagnosis and medical care are crucial to providing appropriate care and support.
Recommended articles
If you want to learn more about Pataua syndrome, you may also want to read the following articles:
- Edwards Team vs. Patau Syndrome – Comparison
- Prenatal diagnosis: Tests that help detect genetic defects
- Support for parents of children with Patau syndrome – Experiences and advice
Patau syndrome is a difficult challenge for both patients and their families. However, understanding this disease, early diagnosis and appropriate medical care can significantly improve the quality of life of people affected by this condition. It is worth being aware and seeking support in dealing with Patau syndrome.