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Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion
Journal of Korean Medical Science ; : 125-128, 2002.
Article in English | WPRIM | ID: wpr-87466
ABSTRACT
Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH) for 22q11 deletion in two fetuses with tetralogy of fallot. Karyotyping and FISH of the parents revealed that one fetus inherited the disease from maternal microdeletion. These findings suggest the importance of performing FISH in pregnancies with prenatally detected tetralogy of Fallot.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Prenatal Diagnosis / Tetralogy of Fallot / Chromosomes, Human, Pair 22 / Echocardiography / Chromosome Deletion / In Situ Hybridization, Fluorescence / Fetal Diseases Type of study: Diagnostic study Limits: Adult / Female / Humans / Pregnancy Language: English Journal: Journal of Korean Medical Science Year: 2002 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Prenatal Diagnosis / Tetralogy of Fallot / Chromosomes, Human, Pair 22 / Echocardiography / Chromosome Deletion / In Situ Hybridization, Fluorescence / Fetal Diseases Type of study: Diagnostic study Limits: Adult / Female / Humans / Pregnancy Language: English Journal: Journal of Korean Medical Science Year: 2002 Type: Article