Síndrome XXXXX

A Síndrome XXXXX, também conhecida como Pentassomia X, Pentassomia Cromossômica X, Poli-X ou Penta-X, é uma desordem cromossômica muito rara, com apenas cerca de 30 casos descritos.

Trata-se de uma anormalidade numérica cromossômica onde estão presentes 49 cromossomos, ao invés de 46, sendo o cariótipo 49,XXXXX. O mecanismo de desenvolvimento desta patologia relaciona-se com a não-disjunção de material genético durante a meiose.

O primeiro caso descrito desta síndrome foi em 1963. Portadores apresentam retardo mental grave, malformações craniofaciais, baixa estatura e outras alterações congênitas.[1]

Referências

  1. Cho YG, Kim DS, Lee HS, et al A case of 49,XXXXX in which the extra X chromossomes were maternal in origin 2004 J Clin Pathol 57:1004-1006.
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