Unbalanced cryptic translocation der(14)t(9;14)(q34.3:q32.33) identified by subtelomeric FISH

Clinical Dysmorphology

Volumn 12, Issue 4, 2003, Pages 261-265

  Leube, Barbara ^a   Majewski, Frank ^a   Drechsler, Matthias ^a   Royer Pokora, Brigitte ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Deletion 14q32.33; Duplication 9q34.3; Mental retardation; Subtelomeric FISH; Unbalanced translocation

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME 9Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENETIC SCREENING; HEART ATRIUM SEPTUM DEFECT; HUMAN; IMMUNOLOGICAL PROCEDURES; MOTOR DEVELOPMENT; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SPEECH DEVELOPMENT; TELOMERE;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 9; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC SCREENING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; PHENOTYPE; TELOMERE; TRANSLOCATION, GENETIC;

EID: 0142043967     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200310000-00010     Document Type: Article

References (11)

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