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Trisomy 13

(Patau Syndrome; Trisomy D)

By

Nina N. Powell-Hamilton

, MD, Sidney Kimmel Medical College at Thomas Jefferson University

Reviewed/Revised Oct 2023
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Topic Resources

Trisomy 13 is caused by an extra chromosome 13 and causes abnormal forebrain, midface, and eye development; severe intellectual disability; heart defects; and small birth size. Diagnosis is with cytogenetic testing. Treatment is supportive.

Trisomy 13 occurs in approximately 1.7/10,000 pregnancies (based on data from induced abortion for fetal anomalies, stillbirths, and live births) (1 General reference Trisomy 13 is caused by an extra chromosome 13 and causes abnormal forebrain, midface, and eye development; severe intellectual disability; heart defects; and small birth size. Diagnosis is... read more General reference ); approximately 80% of cases are complete trisomy 13. Advanced maternal age increases the likelihood, and the extra chromosome is usually maternally derived.

The ears are abnormally shaped and usually low-set. Hearing loss is common. Scalp defects and dermal sinuses are also common. Loose folds of skin often are present over the back of the neck.

General reference

  • 1. Goel N, Morris JK, Tucker D, et al: Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis. Am J Med Genet A 179(12):2382-2392, 2019. doi: 10.1002/ajmg.a.61365

Diagnosis of Trisomy 13

  • Cytogenetic testing by karyotyping, fluorescent in situ hybridization (FISH) analysis, and/or chromosomal microarray analysis

Diagnosis reference

Treatment of Trisomy 13

  • Supportive care

The underlying genetic abnormality cannot be cured.

Support for the family is critical.

Prognosis for Trisomy 13

Prognosis reference

  • 1. Meyer RE, Liu G, Gilboa SM, et al: Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study. Am J Med Genet A 170A(4):825-837, 2016. doi: 10.1002/ajmg.a.37495

More Information

The following English-language resources may be useful. Please note that THE MANUAL is not responsible for the content of these resources.

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