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Trisomy 13 Syndrome

  • Reference work entry
Atlas of Genetic Diagnosis and Counseling

  • 355 Accesses

In 1960, Patau et al. first recognized the relation of trisomy 13 to a clinical syndrome. Incidence is estimated to be 1/4,000–1/10,000 live births.

Synonyms and Related Disorders

Patau syndrome

Genetics/Basic Defects

  1. 1.

    Trisomy 13

    1. a.

      Mechanism: due to meiotic nondisjunction

      1. i.

        Maternal origin of the extra chromosome (90%)

      2. ii.

        Stage of nondisjunction: mostly maternal meiosis I (vs. meiosis II in trisomy 18)

      3. iii.

        Paternal origin of the extra chromosome (10%): The majority is primarily postzygotic mitotic errors.

    2. b.

      Frequency: 75% of cases

  2. 2.

    Translocation trisomy 13

    1. a.

      Mechanism: de novo (75%) or familial transmission (25%)

    2. b.

      Frequency: 20% of cases

    3. c.

      Trisomy 13 due to t(13;13): The structural abnormalities are usually isochromosomes originating in mitosis.

  3. 3.

    Mosaic trisomy 13

    1. a.

      Mechanism: due to postzygotic (postfertilization) mitotic nondisjunction

    2. b.

      Frequency: 5% of cases

    3. c.

      Variable phenotype from full trisomy to near normal

    4. d....

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Trisomy 13 Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_235

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