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

American Journal of Medical Genetics, Part A

Volumn 164, Issue 8, 2014, Pages 2003-2012

  Filges, Isabel ^a,b   Sparagana, Steven ^c   Sargent, Michael ^d   Selby, Kathryn ^d   Schlade Bartusiak, Kamilla ^a   Lueder, Gregg T ^e   Robichaux Viehoever, Amy ^e   Schlaggar, Bradley L ^e   Shimony, Joshua S ^f   Shinawi, Marwan ^e  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

16p11.2; Microduplication; MRI; Neurological; T2 hyperintensity

Indexed keywords

ANTICONVULSIVE AGENT; MITOGEN ACTIVATED PROTEIN KINASE; QUETIAPINE; SERTRALINE;

ADOLESCENT; ADULT; ANXIETY DISORDER; ARTICLE; BRAIN DAMAGE; BRAIN VENTRICLE DILATATION; CAMPTODACTYLY; CASE REPORT; CELL PROLIFERATION; CHILD; CHROMOSOME 16P; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; GAIT DISORDER; GENE OVEREXPRESSION; GENETIC SCREENING; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KARYOTYPING; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MUSCLE HYPOTONIA; NEUROIMAGING; NEURONAL CEROID LIPOFUSCINOSIS; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SPEECH DELAY; TONIC CLONIC SEIZURE; VISUAL IMPAIRMENT; YOUNG ADULT; BRAIN; CHROMOSOME 16; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FACIES; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; BRAIN; CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FACIES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MAGNETIC RESONANCE IMAGING; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84904410314     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36605     Document Type: Article

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