Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus

European Journal of Medical Genetics

Volumn 53, Issue 3, 2010, Pages 162-167

  Rea, Gillian ^a   McCullough, Simon ^a   McNerlan, Susan ^a   Craig, Brian ^b   Morrison, Patrick J ^a  

^a BELFAST CITY HOSPITAL   (United Kingdom)

^b ROYAL BELFAST HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

Asymmetric ears; Blepharophimosis; del(3),(q22.3q25.1); Developmental delay; Epicanthus inversus; FOXL2; Interstitial deletion; Microcephaly; Microphthalmia; Ptosis; Short palpebral fissures; Truncus arteriosus

Indexed keywords

DIGOXIN; FUROSEMIDE; SPIRONOLACTONE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXL2; UNCLASSIFIED DRUG;

ARTICLE; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CASE REPORT; CHROMOSOME 3; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART DISEASE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EAR MALFORMATION; ECHOCARDIOGRAPHY; ECHOGRAPHY; EYELID DISEASE; FAMILY HISTORY; FEEDING DISORDER; FEMALE; HEART ATRIUM SEPTUM DEFECT; HEART HEMODYNAMICS; HIP DYSPLASIA; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE 46,XX; LONG PHILTRUM; MICROCEPHALY; MICROPHTHALMIA; NEUROIMAGING; NOSE FEEDING; NOSE MALFORMATION; PALPEBRAL FISSURE ANOMALY; PES EQUINOVARUS; PHENOTYPE; PTOSIS; SKELETON MALFORMATION; SYNDROME DELINEATION; ARTERIAL TRUNK; BLEPHAROPHIMOSIS; CHROMOSOME DELETION; DNA MICROARRAY; GENETICS; GENOTYPE; HEART; HEART DEFECTS, CONGENITAL; PATHOPHYSIOLOGY;

BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FEMALE; GENOTYPE; HEART; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; TRUNCUS ARTERIOSUS;

EID: 77951974684     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.02.008     Document Type: Article

References (9)

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