Association of a novel pericentric inversion of chromosome 9 and recurrent miscarriage: a case report

Mahan Narjabadifam,1 Shahin behrouz sharif,2 Saba dayem omid,3 Aziz khorrami,4 Seyyed vahid mohaddes ardebili,5 Seyyed mojtaba mohaddes ardebili,6,*

1. Department of Genetics, Faculty of Natural Sciences, University of Tabriz
2. Department of Human Genetics, Faculty of Medicine, Tabriz University of Medical Sciences
3. Drug Applied Research Center, Tabriz University of Medical Sciences
4. Department of Genetics, Faculty of Natural Sciences, University of Tabriz
5. Department of Genetics, Faculty of Natural Sciences, University of Tabriz
6. Department of Human Genetics, Faculty of Medicine, Tabriz University of Medical Sciences

Abstract

Introduction

Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosome rearrangements in human and also considered as a heterochromatic polymorphism. due to some studies this inversion can be observed in 1% to 3% of the population and does not usually have a phenotypic effect in most heterozygous carriers. although there are several reports on the relationships of this inversion with infertility, recurrent miscarriage and abnormal clinical phenotypes.

Methods

In this study we investigated a phenotypically normal iranian azeri couple referred to the dr. mohaddes medical genetics laboratory (tabriz, iran), with a history of recurrent miscarriage in the first trimester. conventional chromosomal analysis was performed on the basis of g-banding for both partners to ascertain the role of chromosomal abnormalities.

Results

Chromosomal analysis of the male demonstrated a normal 46, xy karyotype. while the woman was diagnosed with inv (9)(p13q21) which was acknowledged as the reason for her otherwise unexplained abortions.

Conclusion

A novel pericentric inversion of chromosome 9 (inv (9)(p13q21)) was detected in a female with recurrent miscarriage. this case and the other studies on chromosome 9 common inversions are strong evidences to reject the harmlessness of this chromosomal aberration and stresses the importance of chromosome analysis as a routine for couples with unexplained recurrent abortions.

Keywords

Pericentric inversion of chromosome 9, recurrent miscarriage, g-banding, recurrent abortion