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

Author: Gye Hyeong AN ¹ ; Moon Young KIM ; Min Hyoung KIM ; Yun Young KIM ; Kyu Hong CHOI ; Dong Wook KWAK ; So Yeon PARK ; Bom Yi LEE ; Ju Yeon PARK ; Hyun Mee RYU
Author Information

1. Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea. hmryu@yahoo.com
Publication Type:Case Report
Keywords: Paracentric inversion; Chromosome 18
MeSH: Chromosome Aberrations; Chromosomes, Human, Pair 18; Karyotype; Phenotype; Recombination, Genetic
From:Journal of Genetic Medicine 2012;9(2):101-103
CountryRepublic of Korea
Language:English
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.