A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features

European Journal of Medical Genetics

Volumn 56, Issue 3, 2013, Pages 163-170

  Boudry Labis, Elise ^a   Demeer, Bénédicte ^b   Le Caignec, Cédric ^c   Isidor, Bertrand ^c   Mathieu Dramard, Michèle ^b   Plessis, Ghislaine ^d   George, Alice M ^e   Taylor, Juliet ^e   Aftimos, Salim ^e   Wiemer Kruel, Adelheid ^f   Kohlhase, Jürgen ^g   Annerén, Göran ^h   Firth, Helen ⁱ   Simonic, Ingrid ⁱ   Vermeesch, Joris ^j   Thuresson, Ann Charlotte ^h   Copin, Henri ^k   Love, Donald R ^e   Andrieux, Joris ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b AMIENS UNIVERSITY HOSPITAL   (France)

^c NANTES UNIVERSITY HOSPITAL   (France)

^d CHU Clemenceau   (France)

^e AUCKLAND CITY HOSPITAL   (New Zealand)

^f Epilepsy Center   (Germany)

^g UNIVERSITY OF FREIBURG   (Germany)

^h UPPSALA UNIVERSITY   (Sweden)

ⁱ ADDENBROOKE S HOSPITAL   (United Kingdom)

^j UNIVERSITY OF LEUVEN   (Belgium)

^k UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

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Author keywords

9q21.13; Array CGH; Epilepsy; Interstitial deletion; Mental retardation; RORB

Indexed keywords

CARBAMAZEPINE; ETHOSUXIMIDE; VALPROIC ACID;

ADOLESCENT; ARTICLE; AUTISM; BRUXISM; CHILD; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CYTOGENETICS; DIURNAL ENURESIS; ELECTROENCEPHALOGRAM; EPILEPSY; EYE DISEASE; FACE DYSMORPHIA; FEMALE; FOCAL EPILEPSY; GENE DELETION; GENETIC DISORDER; GENETIC SERVICE; GENOTYPE; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HUMAN; HYPERACTIVITY; HYPERTELORISM; HYPERTRICHOSIS; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DEFICIENCY; MICRODELETION SYNDROME; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PHILTRUM; PRESCHOOL CHILD; SCHOOL CHILD; SEIZURE; SKELETON MALFORMATION; SPEECH DISORDER; TONIC CLONIC SEIZURE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; DEVELOPMENTAL DISABILITIES; ELECTRON PROBE MICROANALYSIS; EPILEPSY; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INTELLECTUAL DISABILITY; KARYOTYPE; LANGUAGE DEVELOPMENT DISORDERS; MALE; MICROARRAY ANALYSIS; NEOPLASM PROTEINS; NUCLEAR RECEPTOR SUBFAMILY 1, GROUP F, MEMBER 2; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PROPROTEIN CONVERTASES; PROTEINS; SERINE ENDOPEPTIDASES; TRPM CATION CHANNELS;

EID: 84874333522     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.12.006     Document Type: Article

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