Patau's Syndrome | Trisomy 13 GENETIC disorder

Summary

Plateau Syndrome, or Trisomy 13, is a genetic disorder resulting from an extra copy of chromosome 13, usually due to nondisjunction during meiosis. It presents in several forms, including full, mosaic, partial, and translocation types, affecting survival rates and symptoms. Common malformations include holoprosencephaly, cleft palate, and various eye defects. Diagnosis involves ultrasounds and genetic testing. With a high infant mortality rate—over 90% not surviving past one year—management focuses on symptom relief and supportive care. The condition is more prevalent with increased maternal age, highlighting the complex challenges for affected families.

Takeaways

• 😀 Plateau Syndrome, or Trisomy 13, is a genetic disorder caused by an extra copy of chromosome 13.
• 😀 Most cases of Trisomy 13 are due to random mutations and are not inherited.
• 😀 There are four types of Trisomy 13: full, mosaic, partial, and translocation, each with varying symptoms and survival rates.
• 😀 Full Trisomy 13 occurs in about 95% of cases and is associated with severe symptoms and a lower survival rate.
• 😀 Mosaic Trisomy 13 involves an extra chromosome in some cells, resulting in milder symptoms and better outcomes.
• 😀 Diagnosis can involve ultrasounds and tests like NIPT, followed by invasive procedures for confirmation.
• 😀 Common physical malformations include cleft lip/palate, eye defects, and polydactyly.
• 😀 Complications associated with Trisomy 13 include heart issues, respiratory problems, and a high infant mortality rate.
• 😀 The incidence of Trisomy 13 is higher with advanced maternal age, with an average age of 31 for affected mothers.
• 😀 Management focuses on symptom relief and comfort, as there is no cure, and many infants do not survive beyond their first year.

Q & A

What is Plateau syndrome?

Plateau syndrome, also known as trisomy 13, is a genetic disorder caused by an extra copy of chromosome 13.

How does trisomy 13 occur?

It typically occurs due to a random mutation during meiosis, where non-disjunction leads to an extra chromosome.

What are the different types of trisomy 13?

There are four types: Full Trisomy 13, Mosaic Trisomy 13, Partial Trisomy 13, and Translocation Trisomy 13.

What is the most common type of trisomy 13?

Full Trisomy 13 is the most common type, occurring in about 95% of cases.

What are the main symptoms associated with trisomy 13?

Symptoms can include growth delays, facial malformations, heart problems, and neurological issues like holoprosencephaly.

How is trisomy 13 diagnosed?

Diagnosis can be done through screening tests like ultrasounds or blood tests, followed by confirmatory tests like CVS or amniocentesis.

What are the survival rates for infants with trisomy 13?

Over 90% of affected infants die within the first year, with only 5-10% surviving past one year.

What is the average maternal age for pregnancies affected by trisomy 13?

The average maternal age is around 31 years, with increased risks associated with older maternal age.

What treatments are available for children with trisomy 13?

There is no specific treatment; care focuses on managing symptoms and minimizing discomfort.

How can parents cope with the challenges of having a child with trisomy 13?

Therapy and support groups are effective coping mechanisms for parents and affected children.