A patient with an interstitial duplication of chromosome 5p11-p13.3 further confirming a critical region for 5p duplication syndrome

European Journal of Medical Genetics

Volumn 51, Issue 1, 2008, Pages 54-60

  Loscalzo, Melissa L ^a,b   Becker, Troy A ^b   Sutcliffe, Maxine ^a,b  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

^b JOHNS HOPKINS ALL CHILDREN S HOSPITAL   (United States)

Author keywords

Congenital heart defect; Duplication 5p; FISH; Seizures

Indexed keywords

ANUS ATRESIA; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; BICUSPID AORTIC VALVE; CASE REPORT; CHROMOSOME 5P; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLITORIS; CONGENITAL HEART DISEASE; DEVELOPMENTAL DISORDER; DISEASE COURSE; EAR MALFORMATION; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GASTROESOPHAGEAL REFLUX; GENE LOCUS; GENETIC ASSOCIATION; HEART ATRIUM SEPTUM DEFECT; HEART DISEASE; HUMAN; KARYOTYPE 46,XX; KARYOTYPING; LARYNGOMALACIA; MACROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; SEIZURE;

ADOLESCENT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 5; CLITORIS; EAR; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; PREGNANCY; SEIZURES;

BACTERIA (MICROORGANISMS);

EID: 38549100836     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.09.006     Document Type: Article

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