How do I know if I have Trisomy 13 Syndrome / Patau Syndrome?

Trisomy 13 Syndrome, also known as Patau Syndrome, is a rare chromosomal condition typically diagnosed before birth or in the neonatal period through genetic testing. Because it involves the presence of an extra copy of chromosome 13 in some or all of the body's cells, it is not a condition that develops in adulthood; therefore, if you are an adult seeking information, you may be researching for a family member or investigating a different genetic concern.

What are the primary indicators of Patau Syndrome?

Trisomy 13 Syndrome is characterized by severe intellectual disability and significant physical abnormalities. Most individuals diagnosed with Patau Syndrome exhibit specific clinical features shortly after birth, including heart defects, brain structure abnormalities, microcephaly (small head size), and polydactyly (extra fingers or toes). Because these signs are almost exclusively identified in infancy, it is highly unlikely for an adult to be newly diagnosed with Trisomy 13 Syndrome.

How is Trisomy 13 Syndrome diagnosed?

Diagnosis of Patau Syndrome relies on cytogenetic analysis. If a physician suspects a chromosomal anomaly, they will order specific diagnostic tests. Common methods include:

• Karyotyping: A blood test that visualizes all chromosomes to identify the presence of three copies of chromosome 13.


• Fluorescence In Situ Hybridization (FISH): A rapid test used to detect specific genetic sequences.


• Chromosomal Microarray Analysis (CMA): A high-resolution test used to identify missing or extra genetic material.

When should you consult a genetic specialist?

If you or a family member are experiencing unexplained developmental delays or congenital anomalies, it is important to speak with a primary care provider. While Trisomy 13 Syndrome is identified in infancy, other chromosomal variations can present later in life. When meeting with your doctor, be specific about your medical history and ask for a referral to a clinical geneticist who can provide a formal evaluation and discuss the necessity of genetic testing.

Next steps

• Consult a clinical geneticist to discuss any concerns regarding hereditary conditions.


• Request a referral for genetic counseling to understand the implications of potential test results.


• Connect with the 31 members of the DiseaseMaps.org community who have shared their lived experiences with Trisomy 13 Syndrome.

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; always consult a qualified healthcare provider for diagnosis and treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Patau Syndrome.


• Orphanet: Trisomy 13 (Patau Syndrome).


• Online Mendelian Inheritance in Man (OMIM): Trisomy 13.


• SOFT (Support Organization for Trisomy 18, 13, and Related Disorders).