Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features

European Journal of Medical Genetics

Volumn 54, Issue 2, 2011, Pages 173-176

  Khalifa, Ola A ^a   Walter, Claudia U ^a   Rahbeeni, Z A ^a   Verloes, A ^b  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Array CGH; CHARGE syndrome; Deletion 4q34.3 qter; Duplication 8q22.1 qter; Unbalanced translocation

Indexed keywords

AORTA COARCTATION; ARTICLE; CARDIOVASCULAR MALFORMATION; CASE REPORT; CHOANA ATRESIA; CHROMOSOME 14Q; CHROMOSOME 8Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DNA BINDING; EPICANTHUS; GENE MUTATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTELORISM; KARYOTYPE 46,XY; MALE; MICROGNATHIA; NOSE MALFORMATION; PHENOTYPE; SUBCLAVIAN ARTERY; SYNDROME CHARGE;

CHARGE SYNDROME; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 8; DNA HELICASES; DNA-BINDING PROTEINS; HUMANS; MALE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 79952490140     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.11.007     Document Type: Article

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