Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

Keyphrases

• 16p11.2 100%
• 16p11.2 Duplication 25%
• Anxiety Disorders 25%
• Autism Disorder 25%
• Brain Anomalies 25%
• Brain MRI 25%
• Brain MRI Abnormalities 100%
• Cell Complex 25%
• Cell Proliferation 25%
• Cerebral Lesions 25%
• Clinical Course 25%
• Clinical Features 50%
• Clinical Phenotype 50%
• Clinical Significance 50%
• Developmental Delay 25%
• Diagnostic Work-up 25%
• Duplicated Region 25%
• Epilepsy Syndrome 25%
• ERK MAPK 25%
• ERK Pathway 25%
• Etiologic Mechanisms 25%
• Gene Overexpression 25%
• Incomplete Penetrance 25%
• Intellectual Disability 25%
• Large Cohort 25%
• Malignant Transformation 25%
• Microdeletion 25%
• Microduplication 100%
• Molecular Mechanism 25%
• MRI Findings 25%
• MRI Monitoring 25%
• Neuroanatomical 25%
• Neurodevelopmental Impairment 25%
• Neurodevelopmental Phenotypes 25%
• Neurological Findings 25%
• Neurological Regression 25%
• Neuronal Ceroid Lipofuscinosis 25%
• Neuroradiological Findings 25%
• Psychiatric Disorders 25%
• Significant Developmental Delay 25%
• T2 Hyperintense 25%
• Variable Expressivity 25%
• Ventriculomegaly 25%
• Vision Impairment 25%

Neuroscience

• Anxiety Disorder 33%
• Autism 33%
• Brain Anomaly 33%
• Cell Proliferation 33%
• Magnetic Resonance Imaging 33%
• Magnetic Resonance Imaging of Brain 100%
• MAPK/ERK Pathway 33%
• Mental Disorder 33%
• Neuronal Ceroid Lipofuscinosis 33%