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Cancer Genet ; 235-236: 93-94, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31155481

RESUMO

Isodicentric chromosome 15, also called idic(15), is a rare chromosomal abnormality resulting from inverted duplication of proximal 15q. It is associated with specific clinical findings such as early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizure. Herein we describe a case of a girl with idic(15) syndrome who developed acute lymphoblastic leukemia (ALL) at the age of 9 years. Our case suggests a possible correlation between idic(15) and ALL, and possible functional links between these two conditions.


Assuntos
Transtornos Cromossômicos/genética , Inversão Cromossômica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Transtorno do Espectro Autista/genética , Criança , Cromossomos Humanos Par 15/genética , Feminino , Humanos
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