Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients

American Journal of Medical Genetics, Part A

Volumn 152, Issue 7, 2010, Pages 1711-1717

  Katzaki, Eleni ^a   Morin, Gilles ^b   Pollazzon, Marzia ^a   Papa, Filomena Tiziana ^a   Buoni, Sabrina ^c   Hayek, Joussef ^c   Andrieux, Joris ^d   Lecerf, Laure ^e   Popovici, Cornel ^f   Receveur, Aline ^g   Mathieu Dramard, Michèle ^b   Renieri, Alessandra ^a   Mari, Francesca ^a   Philip, Nicole ^f  

^a UNIVERSITY OF SIENA   (Italy)

^b AMIENS UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY HOSPITAL OF SIENA   (Italy)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e HENRI MONDOR HOSPITAL   (France)

^f TIMONE HOSPITAL   (France)

^g UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

Author keywords

21q interstitial deletion; Array CGH; Chromosome 21; Mental retardation; Thrombocytopenia

Indexed keywords

POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; TRANSCRIPTION FACTOR RUNX1;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 21Q; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DELETION; HUMAN; MALE; MENTAL DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; THROMBOCYTOPENIA; CHROMOSOME 21; CHROMOSOME DELETION; COMPLICATION; GENETICS; INFANT; INTELLECTUAL IMPAIRMENT; NEWBORN; PREGNANCY; SYNDROME; YOUNG ADULT;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 21; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; PREGNANCY; SYNDROME; THROMBOCYTOPENIA; YOUNG ADULT;

EID: 77954121027     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33478     Document Type: Article

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