J Genet Med.  2013 Dec;10(2):104-108. 10.5734/JGM.2013.10.2.104.

Paracentric Inversions Found in Prenatal Diagnosis

Affiliations
  • 1Laboratoy of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea. paranip5@hanmail.net
  • 2Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University, College of Medicine, Seoul, Korea.

Abstract

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.

Keyword

Paracentric inversion; Prenatal diagnosis; Amniocentesis; Chorionic villus sampling
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