Young Jin Kim Shin Yun Byun Seon A Jo Yong Beom Shin Eun Hae Cho Eun Yup Lee Sang-Hyun Hwang
10.3343/kjlm.2011.31.1.49
Korean J Lab Med
2011 Jan;31(1):49-53.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/21239872/
Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 17 Classical Lissencephalies and Subcortical Band Heterotopias / diagnosis
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
PMC3111033
21239872
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
2011