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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Kim, Young Jin, Byun, Shin Yun, Jo, Seon A, Shin, Yong Beom, Cho, Eun Hae, Lee, Eun Yup, Hwang, Sang-Hyun
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2011
Assuntos:
Case Report
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados