Presentation of a clinical case of trisomy 13 (Patau syndrome) with exceptional survival of more than one year, in Ciego de Ávila

Liset Betancourt Castellanos; Dania Espinosa Lazo; Dania L Carrasco Fontes; Livania Lozano Lezcano; Iranaka Avello Benedico; Mercedes Martínez Martínez

2014, Number S2

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Mediciego 2014; 20 (S2)

Presentation of a clinical case of trisomy 13 (Patau syndrome) with exceptional survival of more than one year, in Ciego de Ávila

Betancourt CL, Espinosa LD, Carrasco FDL, Lozano LL, Avello BI, Martínez MM

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ABSTRACT

Trisomy 13 or Patau syndrome described, apparently by Bartholin in 1657, as a general rule it was not recognized the etiology of this trisomy until Patau and collaborators described it in 1960. The incidence is approximately 1:5000 live births. It is the third most common chromosomopathy in live births, after the Down syndrome (trisomy 21) and Edwards syndrome (Trisomy 18). This appears when there are three representatives of chromosome 13 instead of the usual two. These tend to be the result of a meiotic disjunction. (lack of separation of a pair of chromosomes). It is a condition that affects mainly the female sex and survival after the first year of life is exceptional. Due to the survival of a patient in Ciego de Ávila province, which is one year and eight months of age, intends to carry out this work in order to present the case and to review the updated bibliography. In the moment of carrying out this work the patient is attended in the health area.

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