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Oh, Min, Lee, Kim, Park, Won, Kim, Lee, Yoo, and Ryu: Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion
Original Article
Journal of Korean Medical Science

Journal of Korean Medical Science 2002; 17(1): 125-128.

Published online: 22 April 2009

DOI: https://doi.org/10.3346/jkms.2002.17.1.125

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

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

Department of Obstetrics and Gynecology, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Department of Diagnostic Radiology, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Laboratory of edical Genetics, Samsung Cheil Hospital, Seoul, Korea.

Department of Obstetrics and Gynecology., Asan Medical Center, Seoul, Korea.

Department of Pediatrics, Cha Hospital, College of Medicine, Pochun Cha University, Pochun, Korea.

Copyright © 2002 The Korean Academy of Medical Sciences

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.

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

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