Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion

• Published in: American journal of medical genetics. Part A Vol. 164A; no. 8; pp. 2062 - 2068
• Main Authors: Seeley, Andrea H., Durham, Mark A., Micale, Mark A., Wesolowski, Jeffrey, Foerster, Bradley R., Martin, Donna M.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.08.2014; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Cerebellum - abnormalities; Cerebellum - pathology; Child, Preschool; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 16; deletion syndrome; Epilepsy - genetics; FBXO31; Female; Genetic Association Studies; Humans; In Situ Hybridization, Fluorescence; Intellectual Disability - diagnosis; Intellectual Disability - genetics; JPH3; macrocerebellum; Magnetic Resonance Imaging; MAP1LC3B; Phenotype; SLC7A5; SLC7A5; macrocerebellum; MAP1LC3B; JPH3; deletion syndrome; FBXO31

Macrocerebellum is a rare condition characterized by enlargement of the cerebellum with conservation of the overall shape and cytoarchitecture. Here, we report on a child with a distinctive constellation of clinical features including macrocerebellum, epilepsy, apparent intellectual disability, dysa...