24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism

European Journal of Medical Genetics

Volumn 49, Issue 6, 2006, Pages 516-519

  Chen, C P ^a,b,c   Wang, T H ^d   Lin, S P ^a   Chern, S R ^a   Chen, M R ^a,e   Lee, C C ^a   Chen, Y J ^a   Wang, W ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^e NURSING AND MANAGEMENT COLLEGE   (Taiwan)

Author keywords

Array CGH; Congenital heart defects; CTGF; FABP7; HSF2; Interstitial 6q deletion; Microcephaly; Unbalanced reciprocal translocation

Indexed keywords

ANGIOGRAPHY; ARTICLE; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; GROWTH RETARDATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; KARYOTYPING; LUNG ATRESIA; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; CHROMOSOME 6; CHROMOSOME 9; CRANIOFACIAL MALFORMATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; GENE TRANSLOCATION; GENETICS; HEART SEPTUM DEFECT; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 9; CRANIOFACIAL ABNORMALITIES; CYTOGENETICS; DEVELOPMENTAL DISABILITIES; FEMALE; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; INFANT; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PULMONARY ATRESIA; TRANSLOCATION, GENETIC;

EID: 33845926854     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.04.002     Document Type: Article

References (5)

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