Global brain dysmyelination with above-average verbal skills in 18q - Syndrome with a 17 Mb terminal deletion

Acta Neurologica Scandinavica

Volumn 114, Issue 2, 2006, Pages 133-138

  Netzer, C ^a,b,c   Helmstaedter, C ^a   Ehrbrecht, A ^a   Engels, H ^a   Schwanitz, G ^a   Urbach, H ^a   Schroder R ^b   Weber, R G ^a   Kornblum, C ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

Author keywords

18q syndrome; Cerebral dysmyelination; Neuropsychological testing; Verbal skills

Indexed keywords

18Q SYNDROME; ADULT; CASE REPORT; CHROMOSOME 18Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COGNITIVE DEFECT; CORRELATION ANALYSIS; DEMYELINATING DISEASE; DISEASE SEVERITY; FEMALE; HUMAN; JOB EXPERIENCE; KARYOTYPE; MENTAL HEALTH; MOSAICISM; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DISORDER; PHENOTYPE; PSYCHOSOCIAL DEVELOPMENT; PUBERTY; REVIEW; VERBAL COMMUNICATION; VISUAL IMPAIRMENT;

ADULT; BASE SEQUENCE; BRAIN; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 18; COGNITION DISORDERS; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC DISEASES, INBORN; GENETIC SCREENING; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; INTELLIGENCE; MAGNETIC RESONANCE IMAGING; MUTATION; PSYCHOMOTOR DISORDERS; SEQUENCE DELETION; SYNDROME;

EID: 33745817489     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2006.00626.x     Document Type: Review

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