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KMID : 0191120020170010125
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Journal of Korean Medical Science
2002 Volume.17 No. 1 p.125 ~ p.128
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Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion
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Hyun Mee Ryu/Dong Chul Oh
Jee Yeon Min/Moon Hee Lee/Young Mi Kim/So Yeon Park/Hea Sung Won/In Kyu Kim/Young Ho Lee/Shi Joon Yoo/Hyun Mee Ryu
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Abstract
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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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