Resumo

ISAZA DE LOURIDO, Carolina; DUQUE-MONCALEANO, Nathaly; RUIZ-BOTERO, Felipe  e  PACHAJOA, Harry. Detection of Pallister-Killian syndrome case through conventional cytogenetic diagnosis. Rev Cubana Pediatr [online]. 2015, vol.87, n.3, pp. 388-394. ISSN 1561-3119.

Pallister-Killian syndrome occurs from a tetrasomy of chromosome 12 short arm in some body cells due to the presence of isochromosome (12p) whereas the rest of cells have normal chromosomal complement. This phenomenon is called chromosomal mosaicism. It is considered to occur sporadically, with very low chance of recurrence and affects both women and men. Pallister-Killian syndrome or tetrasomy 12p mosaicism has wide non-specific phenotype characterized by higher frequency of hypotonia, severe mental retardation, deafness and seizures that may worsen as age increases. This is the report of a child diagnosed with Pallister-Killian syndrome in Colombia, which makes reference to difficulties in diagnosing a chromosomal anomaly, since this syndrome is not suspected and the testing for conventional karyotype may provide negative results.

Palavras-chave : Pallister-Killian syndrome; congenital anomaly; genetics.

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