Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1459-1464

  Marini, Carla ^a   Cecconi, Antonella ^b   Contini, Elisa ^c   Pantaleo, Marilena ^a   Metitieri, Tiziana ^a   Guarducci, Silvia ^a   Giglio, Sabrina ^c   Guerrini, Renzo ^a   Genuardi, Maurizio ^c,d  

^a UNIVERSITY OF FLORENCE   (Italy)

^b SANTA MARIA ANNUNZIATA HOSPITAL   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

^d Fiorgen Foundation for Pharmacogenomics   (Italy)

Author keywords

Chromosome 15q11 q13; Duplication; Imprinting; Intellectual disability; Interstitial; Parental origin; Seizures

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA5; 4 AMINOBUTYRIC ACID A RECEPTOR BETA3; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA3; CARBAMAZEPINE; PHENOBARBITAL;

ADULT; AGED; ARTICLE; ATP10A GENE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; COORDINATION DISORDER; CYFIP1 GENE; ELECTROENCEPHALOGRAPHY; EPILEPSY; FACE MALFORMATION; FEMALE; GABRA5 GENE; GABRB3 GENE; GABRG3 GENE; GENE; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KARYOTYPING; LEARNING DISORDER; MAGEL2 GENE; MALE; MKRN3 GENE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NDN GENE; OBESITY; OBSESSIVE COMPULSIVE DISORDER; OCA2 GENE; PATERNAL INHERITANCE; PHENOTYPIC VARIATION; PHOBIA; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SNRPN GENE; TONIC CLONIC SEIZURE; TUBGCP5 GENE; UBE3A GENE; ADOLESCENT; CHROMOSOME 15; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; GENETICS; GENOME IMPRINTING; HETEROZYGOTE; INTELLECTUAL DISABILITY; LEARNING DISORDERS; MIDDLE AGED; PHENOTYPE; SEIZURES;

ADOLESCENT; ADULT; AGED; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FEMALE; GENOMIC IMPRINTING; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPING; LEARNING DISORDERS; MALE; MIDDLE AGED; PHENOTYPE; SEIZURES;

EID: 84878250289     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35907     Document Type: Article

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