Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1713-1718

  Margari, Lucia ^a   Di Cosola, Maria Luisa ^b   Buttiglione, Maura ^a   Pansini, Angela ^c   Buonadonna, Antonia Lucia ^c   Craig, Francesco ^a   Cariola, Filomena ^b   Petruzzelli, Maria Giuseppina ^a   Gentile, Mattia ^b,c  

^a UNIVERSITY OF BARI   (Italy)

^b NATIONAL INSTITUTE FOR DIGESTIVE DISEASES   (Italy)

^c DI VENERE HOSPITAL   (Italy)

Author keywords

Array CGH; MCA MR syndrome; Monosomy 8p; Trisomy 12p

Indexed keywords

ANTICONVULSIVE AGENT;

ARTICLE; BEHAVIOR DISORDER; BRAIN DISEASE; BRAIN MAGNETIC RESONANCE; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CHROMOSOME 12; CHROMOSOME 8; CHROMOSOME DELETION; CHROMOSOME DELETION 12P; CHROMOSOME DELETION 8P; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPULSION; CYTOGENETICS; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAPHY; EPILEPSY; FACE DYSMORPHIA; FEMALE; FOLLOW UP; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLIGENCE QUOTIENT; LANGUAGE DISABILITY; MONOSOMY; MONOSOMY 8; NUCLEAR MAGNETIC RESONANCE IMAGING; PARTIAL TRISOMY; PARTIAL TRISOMY 12P; PHONETICS; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; STEREOTYPY; TREATMENT RESPONSE;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; ELECTROENCEPHALOGRAPHY; FACIES; FEMALE; FOLLOW-UP STUDIES; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; KARYOTYPE; MAGNETIC RESONANCE IMAGING; NEUROIMAGING;

EID: 84862670316     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35400     Document Type: Article

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