Clinical and molecular cytogenetic studies in ring chromosome 5: Report of a child with congenital abnormalities

European Journal of Medical Genetics

Volumn 55, Issue 2, 2012, Pages 112-116

  Basinko, Audrey ^a,b,c   Giovannucci Uzielli, Maria Luisa ^d   Scarselli, Gloria ^d   Priolo, Manuela ^e   Timpani, Giuseppina ^e   De Braekeleer, Marc ^a,b,c  

^a FACULTÉ DE MÉDECINE ET DES SCIENCES DE LA SANTÉ   (France)

^b INSERM   (France)

^c CHU MORVAN   (France)

^d UNIVERSITY OF FLORENCE   (Italy)

^e General Hospital   (Italy)

Author keywords

" Cri du chat" phenotype; Chromosome 5; Congenital abnormalities; Ring chromosome

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5; VASCULOTROPIN RECEPTOR 3;

AORTA ANOMALY; ARTERY DILATATION; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CAT CRY SYNDROME; CHROMOSOME DELETION; CONGENITAL MALFORMATION; CYTOGENETICS; DEATH; ECHOGRAPHY; EPICANTHUS; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HEART FAILURE; HEART VALVE STENOSIS; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTELORISM; HYPERTROPHIC CARDIOMYOPATHY; HYPOPLASTIC AORTA; INFANT; INTRAUTERINE GROWTH RETARDATION; KIDNEY HYPOPLASIA; LIMB MALFORMATION; MALE; MICROCEPHALY; MICROGNATHIA; NOSE MALFORMATION; PALPEBRAL FISSURE ANOMALY; PATENT DUCTUS ARTERIOSUS; RING CHROMOSOME; RING CHROMOSOME 5;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 5; CYTOGENETIC ANALYSIS; FACE; HEART DEFECTS, CONGENITAL; HUMANS; RING CHROMOSOMES; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR-3;

BACTERIA (MICROORGANISMS);

EID: 84857442781     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.11.005     Document Type: Article

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