Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion |
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Authors: | Oh Dong Chul Min Jee Yeon Lee Moon Hee Kim Young Mi Park So Yeon Won Hea Sung Kim In Kyu Lee Young Ho Yoo Shi Joon Ryu Hyun Mee |
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Institution: | 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. |
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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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