Cromossomopatia com Cariotipo Normal em Linfócitos: Caso Clínico

descriptionPublicationkeyboard_double_arrow_right Article , Other literature type 16 Sep 2014 Portuguese Publisher:Portuguese Journal of PediatricsJournal:Acta Pediátrica Portuguesa (issn: 0873-9781, eissn: 0873-9781,

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Authors: Saraiva, Jorge M.; Matoso, Eunice; Garcia, Paula; Bento, Gisela; Diogo, Luísa; Marques, Isabel;

doi: 10.25754/pjp.2003.5108

Cromossomopatia com Cariotipo Normal em Linfócitos: Caso Clínico

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Abstract

A trissomia 22 em mosaico é uma cromossomopatia particularmente rara de que foram publicados apenas 10 casos, dois dos quais do sexo masculino. Descrevemos o terceiro caso desta situação numa criança de um ano de idade. Referimos as circunstâncias em que um estudo citogenético normal não permite excluir o diagnóstico de cromossomopatia.

Portuguese Journal of Pediatrics, Vol 34 No 4 (2003)

Keywords

Trissomia 22 - mosaicismo - hemiatrofia

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