Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6

Ring chromosome 6 is a rare chromosome abnormality that arises typically de novo. The phenotypes can be highly variable, ranging from almost normal to severe malformations and neurological defects. We report a case of a 3-year-old girl with mosaic ring chromosome 6 who presented with being small for...

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Detalles Bibliográficos
Autores principales: Nishigaki, Satsuki, Hamazaki, Takashi, Saito, Mika, Yamamoto, Toshiyuki, Seto, Toshiyuki, Shintaku, Haruo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4514952/
https://www.ncbi.nlm.nih.gov/pubmed/26213576
http://dx.doi.org/10.1186/s13039-015-0162-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4514952/
https://www.ncbi.nlm.nih.gov/pubmed/26213576
http://dx.doi.org/10.1186/s13039-015-0162-3

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