J Genet Med.  2012 Dec;9(2):101-103. 10.5734/JGM.2012.9.2.101.

A Prenatal Case of Paracentric Inversion of Chromosome 18, inv(18)(q21.1q22)

  • 1Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea. hmryu@yahoo.com
  • 2Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea.


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.


Paracentric inversion; Chromosome 18
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