A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis

European Journal of Medical Genetics

Volumn 51, Issue 1, 2008, Pages 87-91

  Andrieux, Joris ^a   Cuvellier, Jean Christophe ^a   Duban Bedu, Bénédicte ^b   Joriot Chekaf, Sylvie ^a   Dieux Coeslier, Anne ^a   Manouvrier Hanu, Sylvie ^a   Delobel, Bruno ^b   Vallee, Louis ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

18pter Duplication; 1qter Deletion; AKT3; Array CGH; Corpus callosum agenesis; Microcephaly; Simplified gyral pattern; Vermis hypoplasia

Indexed keywords

AKT3 PROTEIN; PROTEIN SERINE THREONINE KINASE; UNCLASSIFIED DRUG; VALPROIC ACID;

ARTICLE; BRAIN MALFORMATION; CAMPTODACTYLY; CASE REPORT; CEREBELLUM VERMIS; CHROMOSOME ANALYSIS; CINGULATE GYRUS; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM AGENESIS; CYTOGENETICS; DISEASE SEVERITY; DNA MICROARRAY; EDWARDS SYNDROME; EPILEPSY; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; FOOT MALFORMATION; GENE DELETION; GENE DUPLICATION; GROWTH RETARDATION; HUMAN; HYPOPLASIA; KARYOTYPING; LIP MALFORMATION; LOW BIRTH WEIGHT; LOW SET EAR; MALE; MICROCEPHALY; MICROGNATHIA; MICROGYRIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; VERMIS HYPOPLASIA;

EID: 38549116809     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.10.004     Document Type: Article

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