Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1594-1598

  Avila, Magali ^a   Kirchhoff, Maria ^b   Marle, Nathalie ^c,d   Hove, Hanna D ^b   Chouchane, Mondher ^a   Thauvin Robinet, Christel ^a,d   Masurel, Alice ^a   Mosca Boidron, Anne Laure ^c,d   Callier, Patrick ^c,d   Mugneret, Francine ^c   Kjaergaard, Susanne ^b   Faivre, Laurence ^a,d  

^a Medical University of Dijon   (France)

^b Rigshospitalet   (Denmark)

^c DIJON UNIVERSITY HOSPITAL   (France)

^d UNIVERSITÉ DE BOURGOGNE   (France)

Author keywords

20q11.2 duplication; Array CGH; ASXL1 gene; Ridging of the metopic suture; Trigonocephaly

Indexed keywords

BACLOFEN;

ARTICLE; ASXL1 GENE; BORHING OPITZ SYNDROME; BRACHYCEPHALY; CASE REPORT; CHILD; CHROMOSOME 20Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL SYNOSTOSIS; CRYPTORCHISM; CYTOGENETICS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DYSTONIA; EPILEPSY; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; HETEROZYGOSITY; HUMAN; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; KARYOTYPING; MALE; MOLECULAR DYNAMICS; PENIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SPEECH DELAY; SPEECH THERAPY; TONGUE DYSTONIA;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 20; CRANIOSYNOSTOSES; DEVELOPMENTAL DISABILITIES; FEMALE; HAND DEFORMITIES, CONGENITAL; HETEROZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MOSAICISM; MUTATION; PREGNANCY; REPRESSOR PROTEINS; SYNDROME; TRISOMY;

EID: 84879459524     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35970     Document Type: Article

References (12)

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