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
- KMID: 2157607
- DOI: http://doi.org/10.3346/jkms.2002.17.1.125
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
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Prenatal screening of DiGeorge (22q11.2 deletion) syndrome by abnormalities of the great arteries among Thai pregnant women
- Prenatal Diagnosis of Chromosome 22q11.2 Deletions: Experiences in a Single Institution
- Chromosome 22q11 Deletion in Patients with Infundibular Ventricular Septal Defect
- Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome
- A Case of Partial DiGeorge Syndrome
