Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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A Prenatal Case of Paracentric Inversion of Chromosome 18, inv(18)(q21.1q22)

  • An, Gye-Hyeong (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Kim, Moon Young (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Kim, Min Hyoung (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Kim, Yun Young (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Choi, Kyu Hong (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Kwak, Dong Wook (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Park, So Yeon (Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Lee, Bom Yi (Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Park, Ju Yeon (Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Ryu, Hyun Mee (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
  • Received : 2012.11.21
  • Accepted : 2012.12.22
  • Published : 2012.12.31
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Abstract

Paracentric inversion of chromosome 18 is a rare cytogenetic abnormality. The vast majority of paracentric inversions are harmless and the offspring of paracentric inversion carriers have only slightly elevated risks for unbalanced karyotypes. However, various clinical phenotypes are seen due to breakpoint variation or recombination. We report a prenatally detected case of familial paracentric inversion of chromosome 18, inv(18)(q21.1q22), with normal clinical features.

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References

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