Disruption of Friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis

Clinical Genetics

Volumn 71, Issue 3, 2007, Pages 195-204

  Finelli, Palma ^a,b   Pincelli, A I ^b   Russo, S ^a   Bonati, M T ^a   Recalcati, M P ^a   Masciadri, M ^a   Giardino, D ^a   Cavagnini, F ^b   Larizza, L ^a,b  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

Balanced translocation; Breakpoint; FOG 2; Gonadal dysgenesis; Heart defects

Indexed keywords

CHORIONIC GONADOTROPIN; CORTICOTROPIN; FOLLITROPIN; LUTEINIZING HORMONE; TESTOSTERONE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOG 2; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CHILD DEVELOPMENT; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION 10; CHROMOSOME TRANSLOCATION 8; CLINICAL EVALUATION; CONGENITAL HEART MALFORMATION; CORTICOTROPIN BLOOD LEVEL; CRYPTORCHISM; CYTOGENETICS; DUAL ENERGY X RAY ABSORPTIOMETRY; ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLITROPIN BLOOD LEVEL; GENE DISRUPTION; GENE EXPRESSION PROFILING; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; GONAD FUNCTION; GONADAL DYSGENESIS; GYNECOMASTIA; HEART ATRIUM SEPTUM DEFECT; HEART DEVELOPMENT; HUMAN; LUTEINIZING HORMONE BLOOD LEVEL; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT REFERRAL; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROVOCATION TEST; QUANTITATIVE ANALYSIS; SIGNAL TRANSDUCTION; TESTOSTERONE BLOOD LEVEL;

AMINO ACID SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 8; DNA-BINDING PROTEINS; GONADAL DYSGENESIS; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; KARYOTYPING; MALE; SEQUENCE DELETION; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 33847294697     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00752.x     Document Type: Article

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