Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3

Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by an unbalanced segregation of the parental balanced translocation of 17p with other chromo...

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Autores principales: Kim, Young Jin, Byun, Shin Yun, Jo, Seon A, Shin, Yong Beom, Cho, Eun Hae, Lee, Eun Yup, Hwang, Sang-Hyun
Formato: Artigo
Lenguaje:Inglês
Publicado: The Korean Society for Laboratory Medicine 2011
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3111033/
https://ncbi.nlm.nih.gov/pubmed/21239872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/kjlm.2011.31.1.49
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