Complete trisomy 13 syndrome

Synonyms: Chromosome 13, trisomy 13 complete; D trisomy syndrome (formerly); Patau syndrome; Trisomy 13

Summary

Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year. [from MedlinePlus Genetics]

Available tests

54 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (54 available)

Cytogenetics Tests

Molecular Genetics Tests

Reviews

Clinical resources

Practice guidelines

ACMG ACT, 2020
American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 13: Positive Cell Free DNA Screen, 2020

Consumer resources

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