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KMID : 1189120130100020104
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대한의학유전학회지
2013 Volume.10 No. 2 p.104 ~ p.108
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Paracentric Inversions Found in Prenatal Diagnosis
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Lee Shin-Yeong
Lee Bom-Yi
Park Ju-Yeon
Choi Eun-Young
Lee Yeon-Woo
Oh Ah-Rum
Ryu Hyun-Mee
Park So-Yeon
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Abstract
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Purpose: This study was designed to confirm whether the paracentric inversions of fetuses and parents may be harmless.
Materials and methods: We report 10 cases (0.14%) with paracentric inversions among 7,181 prenatal cases observed during prenatal diagnosis performed at Cheil General Hospital between January 2009 and June 2013. We used cytogenetic GTL- and RBG-banding techniques.
Results: Of the 10 cases, nine cases were transmitted from each of the parents, and one case was de novo. Nine cases were phenotypically normal up to one month of age after birth. One case was lost to follow-up. We present prenatal diagnosis and follow-up examination of the fetuses with paracentric inversion.
Conclusion: Based on our cases, most paracentric inversions are considered to be harmless. The precise identification of paracentric inversions might be clinically important and helpful for genetic counseling.
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KEYWORD
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Paracentric inversion, Prenatal diagnosis, Amniocentesis, Chorionic villus sampling
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