Trisomy 13 Syndrome / Patau Syndrome synonyms

Trisomy 13 Syndrome, most commonly known as Patau Syndrome, is a rare chromosomal disorder caused by the presence of an extra copy of chromosome 13. While medical records most frequently use the terms Trisomy 13 Syndrome or Patau Syndrome, the condition is also referred to as D-trisomy or Bartholin-Patau syndrome in older medical literature.

Why are there multiple names for Patau Syndrome?

The naming of Trisomy 13 Syndrome reflects its history of discovery. It was first described by Thomas Bartholin in 1657, but its chromosomal basis was not identified until 1960 by Dr. Klaus Patau. Consequently, the condition carries both historical eponyms and modern cytogenetic descriptions. In clinical practice today, Patau Syndrome is the preferred eponym, while Trisomy 13 Syndrome is the standard used in genomic databases to describe the specific genetic error.

What are the common synonyms and classifications for Trisomy 13 Syndrome?

Medical professionals and geneticists use several terms to categorize the condition across international systems. Understanding these synonyms is vital when reviewing medical records or searching for research papers:

• Patau Syndrome: The most widely recognized clinical name.


• Trisomy 13: The standard cytogenetic description found in OMIM and clinical reports.


• D-trisomy: An older, less common term referring to the D-group of chromosomes in early karyotyping.


• Bartholin-Patau Syndrome: An archaic eponym that honors both the original observation and the later genetic identification.

How is this condition classified in medical databases?

Major medical authorities standardize the naming to ensure consistency in care and research. In the Orphanet database, the condition is indexed as Patau Syndrome (ORPHA: 779). The OMIM (Online Mendelian Inheritance in Man) database identifies it by the entry number #232600. The ICD-10 classification system uses the code Q91.7 to officially document the diagnosis of Trisomy 13 Syndrome.

Next steps

• Consult with a clinical geneticist to confirm the specific karyotype (e.g., full trisomy, translocation, or mosaicism).


• Connect with the 31 members of our Trisomy 13 Syndrome community at DiseaseMaps.org to share experiences and find peer support.


• Review resources from the NIH GARD to better understand the diagnostic journey and multidisciplinary care needs.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.

References

• Orphanet: Patau Syndrome (ORPHA: 779)


• NIH GARD: Trisomy 13 (Patau Syndrome)


• OMIM: Trisomy 13 (#232600)


• PubMed: Clinical and cytogenetic analysis of Trisomy 13