Partial monosomy Xq(Xq23 → qter) and trisomy 4p(4p15.33 → pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features

Brain and Development

Volumn 30, Issue 6, 2008, Pages 425-429

  Bartocci, Arnaldo ^a   Striano, Pasquale ^b,c   Mancardi, Maria Margherita ^c   Fichera, Marco ^d   Castiglia, Lucia ^d   Galesi, Ornella ^d   Michelucci, Roberto ^e   Elia, Maurizio ^d  

^a Hospital of Perugia   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d OASI RESEARCH INSTITUTE IRCCS   (Italy)

^e BELLARIA HOSPITAL   (Italy)

Author keywords

Array CGH; Chromosome abnormalities; Epilepsy; Monosomy Xq; Trisomy 4p

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAM; FACE DYSMORPHIA; FEMALE; FOCAL EPILEPSY; GENE LOCATION; GENE REARRANGEMENT; HUMAN; INTELLECT; INTRACTABLE EPILEPSY; KARYOTYPE; PARTIAL MONOSOMY; PARTIAL MONOSOMY XQ; PHENOTYPE; TRISOMY; TRISOMY 4P;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, X; ELECTROENCEPHALOGRAPHY; EPILEPSIES, PARTIAL; HUMANS; KARYOTYPING; MALE; MONOSOMY; TRISOMY;

EID: 42649141200     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2007.11.004     Document Type: Article

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