Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1370-1375

  Philippe, Anne ^a   Malan, Valérie ^a   Jacquemont, Marie Line ^a   Boddaert, Nathalie ^b   Bonnefont, Jean Paul ^a   Odent, Sylvie ^c   Munnich, Arnold ^a   Colleaux, Laurence ^a   Cormier Daire, Valérie ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITÉ DE RENNES 1   (France)

Author keywords

Developmental delay; Facial dysmorphism; GRIA3; STAG2

Indexed keywords

ADULT; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME XQ; CHROMOSOME XQ25; CLINICAL ASSESSMENT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GRIA3 GENE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SPEECH DISORDER; STROMAL ANTIGEN 2 GENE; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER; BRAIN; GENE DUPLICATION; GENETIC ASSOCIATION STUDY; GENETICS; MULTIPLE MALFORMATION SYNDROME; MULTIPLEX POLYMERASE CHAIN REACTION; PATHOLOGY; RADIOGRAPHY; SEX CHROMOSOME ABERRATION; TRISOMY; X CHROMOSOME; X LINKED MENTAL RETARDATION; YOUNG ADULT;

AMPA RECEPTOR; CELL NUCLEUS ANTIGEN; GLUTAMATE RECEPTOR IONOTROPIC, AMPA 3; STAG2 PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; ANTIGENS, NUCLEAR; BRAIN; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DUPLICATION; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION, X-LINKED; MULTIPLEX POLYMERASE CHAIN REACTION; PHENOTYPE; RECEPTORS, AMPA; SEX CHROMOSOME ABERRATIONS; TRISOMY; YOUNG ADULT;

EID: 84878223993     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35307     Document Type: Article

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