An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions

European Journal of Medical Genetics

Volumn 52, Issue 5, 2009, Pages 353-357

  Verheij, J B G M ^a   de Munnik, S A ^b   Dijkhuizen, T ^a   de Leeuw, N ^b   Olde Weghuis, D ^b   van den Hoek, G J ^c   Rijlaarsdam, R S ^d   Thomasse, Y E M ^a   Dikkers, F G ^a   Marcelis, C L M ^b   van Ravenswaaij Arts, C M A ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Röpcke Zweers Hospital   (Netherlands)

^d TWENTEBORG HOSPITAL   (Netherlands)

Author keywords

Array CGH; Coloboma; Digital anomalies; Heart defect; Interstitial deletion 8q

Indexed keywords

CARBAMAZEPINE; VALPROIC ACID; DNA;

ARTICLE; BRONCHOSCOPY; CASE REPORT; CHONDRODYSPLASIA; CHROMOSOME 8Q; CHROMOSOME ANALYSIS; CLINICAL EXAMINATION; COLOBOMA; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CONVULSION; ECHOGRAPHY; FAMILY HISTORY; FEMALE; FINGER MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; LIMB MALFORMATION; MALE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCUTANEOUS ENDOSCOPIC GASTROSTOMY; PHENOTYPIC VARIATION; PSYCHOMOTOR RETARDATION; SEIZURE; SKULL RADIOGRAPHY; UROGRAPHY; CHROMOSOME 8; CHROMOSOME DELETION; CHROMOSOME PAINTING; FATALITY; GENETICS; MULTIPLE MALFORMATION SYNDROME; STANDARD;

MUS;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, PAIR 8; COLOBOMA; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; FATAL OUTCOME; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; LANGER-GIEDION SYNDROME; MALE; REFERENCE STANDARDS; SEIZURES;

EID: 68949097530     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.05.006     Document Type: Article

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