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J Korean Med Sci. 2002 Feb;17(1):125-8.

Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.

Author information

1
Department of Obstetrics, Samsung Cheil Hospital Women's Healthcare Center, Sungkyunkwan University School of Medicine, 1-19 Mookjeung-dong, Choong-gu, Seoul 100-380, Korea.

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.

PMID:
11850602
PMCID:
PMC3054817
DOI:
10.3346/jkms.2002.17.1.125
[Indexed for MEDLINE]
Free PMC Article

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