4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization

European Journal of Paediatric Neurology

Volumn 19, Issue 4, 2015, Pages 477-483

  Piccione, Maria ^a   Salzano, Emanuela ^a   Vecchio, Davide ^a   Ferrara, Dante ^a   Malacarne, Michela ^b   Pierluigi, Mauro ^b   Ferrara, Ines ^a   Corsello, Giovanni ^a  

^a UNIVERSITY OF PALERMO   (Italy)

^b GALLIERA HOSPITAL   (Italy)

Author keywords

Array CGH; Chinese children; Duplication deletion 4p; Trisomy 4p; Wolf Hirschhorn syndrome

Indexed keywords

PHENOBARBITAL;

ANTICONVULSANT THERAPY; ARTICLE; CASE REPORT; CHILD; CHINESE; CHROMOSOME 4P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; DRUG DOSE INCREASE; ECHOENCEPHALOGRAPHY; ELECTROENCEPHALOGRAPHY; FEMALE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HEART LEFT RIGHT SHUNT; HEMANGIOMA; HUMAN; HYPERTELORISM; HYPOXIC ISCHEMIC ENCEPHALOPATHY; MEDICAL HISTORY; MONGOLIAN SPOT; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT FORAMEN OVALE; PERCEPTION DEAFNESS; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROPHYLAXIS; PULMONARY VALVE STENOSIS; SYSTOLIC HEART MURMUR; TONIC CLONIC SEIZURE; WOLF HIRSCHHORN SYNDROME; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOME 4; CHROMOSOME DISORDER; DEVELOPMENTAL DISORDER; DNA MICROARRAY; GENETICS; GENOTYPE; HUMAN GENOME; PHENOTYPE; TRISOMY;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 4; DEVELOPMENTAL DISABILITIES; FEMALE; GENOME, HUMAN; GENOTYPE; HUMANS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; TRISOMY; WOLF-HIRSCHHORN SYNDROME;

EID: 84931577954     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2015.02.002     Document Type: Article

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