Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions

European Journal of Medical Genetics

Volumn 52, Issue 6, 2009, Pages 404-408

  Bliek, J ^a   Snijder, S ^a   Maas, S M ^a   Polstra, A ^a   van der Lip, K ^a   Alders, M ^a   Knegt, A C ^a   Mannens, M M A M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Beckwith Wiedemann syndrome; Beckwith Wiedemann syndrome imprinted region 1 and 2; Chromosome 11p15; Differentially methylated regions; Duplication; Growth retardation; Imprinting; Methylation; Overgrowth; Silver Rusell syndrome; Translocation

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C; SOMATOMEDIN B;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 11P; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; FAMILY; FATHER; GENE OVEREXPRESSION; GROWTH RETARDATION; HUMAN; MOTHER; PHENOTYPE;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 4; CYCLIN-DEPENDENT KINASE INHIBITOR P57; FEMALE; GENOMIC IMPRINTING; HUMANS; PHENOTYPE; PREGNANCY;

EID: 70350620718     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.08.006     Document Type: Article

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