J Korean Med Sci.  2002 Feb;17(1):125-128. 10.3346/jkms.2002.17.1.125.

Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion

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.

Keyword

Chromosome, Human, Pair 22; Prenatal Diagnosis; Tetralogy of Fallot; In Situ Hybridiza-tion, Fluorescence; Di George Sundrome

MeSH Terms

Adult
*Chromosome Deletion
*Chromosomes, Human, Pair 22
Echocardiography
Female
Fetal Diseases/*diagnosis/genetics
Humans
In Situ Hybridization, Fluorescence/methods
Pregnancy
*Prenatal Diagnosis/methods
Tetralogy of Fallot/*diagnosis/genetics
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