article_metadata: Young Jin Kim Shin Yun Byun Seon A Jo Yong Beom Shin Eun Hae Cho Eun Yup Lee Sang-Hyun Hwang
article_metadata: 10.3343/kjlm.2011.31.1.49
article_metadata: Korean J Lab Med
article_metadata: 2011 Jan;31(1):49-53.
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/21239872/
article_metadata: Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 17 Classical Lissencephalies and Subcortical Band Heterotopias / diagnosis
article_metadata: Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 17 Classical Lissencephalies and Subcortical Band Heterotopias / diagnosis Case Reports Research Support, Non-U.S. Gov't Abnormalities, Multiple / genetics Adult Brain / abnormalities Chromosome Banding Chromosome Segregation Female Gene Deletion Humans In Situ Hybridization, Fluorescence Infant, Newborn Karyotyping Magnetic Resonance Imaging Male Phenotype Risk Translocation, Genetic
article_metadata: PMC3111033
article_metadata: 21239872
article_metadata: 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
article_metadata: 2011