De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 126-129

  Thevenon, Julien ^a   Callier, Patrick ^b   Thauvin Robinet, Christel ^a   Mejean, Nathalie ^a   Falcon Eicher, Sylvie ^a   Maynadie, Marc ^b   De Maistre, Emmanuel ^b   Bidot, Samuel ^b   Huet, Frédéric ^a   Beri Dexheimer, Mylène ^c   Jonveaux, Philippe ^c   Mugneret, Francine ^b   Faivre, Laurence ^a  

^a Medical University of Dijon   (France)

^b DIJON UNIVERSITY HOSPITAL   (France)

^c Génétique Moléculaire et Cytogénétique   (France)

Author keywords

Array CGH; Deletion 21q22.11q22.12; Mental retardation; RUNX1 gene; Thrombocytopenia

Indexed keywords

TRANSCRIPTION FACTOR RUNX1;

ASTIGMATISM; CASE REPORT; CHROMOSOME 21Q; CHROMOSOME DELETION; CLINICAL FEATURE; CONGENITAL INFECTION; DIFFERENTIAL DIAGNOSIS; ERYTHROCYTE TRANSFUSION; EYE EXAMINATION; GROWTH RETARDATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; LETTER; MALE; NYSTAGMUS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; STRABISMUS; THROMBOCYTOPENIA;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 21; CORE BINDING FACTOR ALPHA 2 SUBUNIT; DIAGNOSIS, DIFFERENTIAL; HUMANS; MALE; MENTAL RETARDATION; PHENOTYPE; SYNDROME; THROMBOCYTOPENIA;

EID: 78650646595     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33809     Document Type: Letter

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