Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

American Journal of Medical Genetics, Part A

Volumn 149, Issue 8, 2009, Pages 1661-1677

  Wat, Margaret J ^a   Shchelochkov, Oleg A ^a   Holder, Ashley M ^b   Breman, Amy M ^a   Dagli, Aditi ^c   Bacino, Carlos ^a   Scaglia, Fernando ^a   Zori, Roberto T ^c   Cheung, Sau Wai ^a   Scott, Daryl A ^a   Kang, Sung Hae Lee ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

8p23.1 deletion syndrome; Array comparative genomic hybridization; Congenital heart defects; Diaphragmatic hernia; GATA4; Prenatal diagnosis

Indexed keywords

INOTROPIC AGENT; TRANSCRIPTION FACTOR GATA 4;

ARTICLE; BIRTH WEIGHT; CARDIOPULMONARY ARREST; CHROMOSOME 8P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; DIAPHRAGM HERNIA; EXTRACORPOREAL OXYGENATION; FEMALE; FETUS ECHOGRAPHY; GENE DELETION; GENE MUTATION; GENOTYPE; GESTATIONAL AGE; HAPLOTYPE; HOSPITAL ADMISSION; HOSPITAL DISCHARGE; HUMAN; MALE; MOLECULAR PHYLOGENY; MONOZYGOTIC TWINS; NEWBORN; PATENT DUCTUS ARTERIOSUS; PERINATAL PERIOD; PHENOTYPE; PHYSICAL EXAMINATION; PRENATAL PERIOD; PRIORITY JOURNAL; PULMONARY VALVE ATRESIA; RESUSCITATION; SEIZURE; STENT; TRICUSPID VALVE ATRESIA; TWIN DISCORDANCE;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; FATAL OUTCOME; FEMALE; GATA4 TRANSCRIPTION FACTOR; HEART DEFECTS, CONGENITAL; HERNIA, DIAPHRAGMATIC; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE;

EID: 68049097102     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32896     Document Type: Article

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