Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation

Genetic Counseling

Volumn 19, Issue 1, 2008, Pages 29-35

  Tüysüz, Beyhan ^a   Demirel, A ^a   Uysal, S ^a   Beyer, V ^b   Bartsch, O ^b  

^a ISTANBUL UNIVERSITY   (Turkey)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Monosomy 9pter p23; Trisomy 7q33 qter; West syndrome

Indexed keywords

PHENOBARBITAL;

ARTICLE; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME 9P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; ELECTROENCEPHALOGRAPHY; FACE MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANTILE SPASM; KARYOTYPE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; TONIC SEIZURE; TRISOMY; WEST SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, PAIR 7; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; PHENOTYPE; SPASMS, INFANTILE; TRANSLOCATION, GENETIC; TURKEY;

SIMIAE;

EID: 44649113696     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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