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Medifam
versão impressa ISSN 1131-5768
Resumo
SIERRA SANTOS, L.; ALVAREZ HERRERO, C.; GIL SANCHEZ, L. e SIERRA SANTOS, E.. Patau's syndrome, a survival that gets over the prognosis . Medifam [online]. 2001, vol.11, n.8, pp.70-74. ISSN 1131-5768.
The trisomy 13 or Patau´s Syndrome is an infrecuent aneuploidy which has an incidence of one among 20,000 liveborn, that only in rare circumstances lets these patients live more than a year. We present the case of a patient with mosaicism of 93% trisomic cells and the 7% euploid ones who has reached the adulthood in spite of her serious somatic malformations.
Palavras-chave : Trisomy 13; Congenital malformation; Patau´s Syndrome; Aneuploidy.