A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated PregnancyLoss: A Case Report

Abstract

Pericentric inversions are among the most frequent chromosomal rearrangements with a frequency of 1-2%. There is no phenotypic effect in the majority of pericentric inversion heterozygote carriers, when it is a balanced rearrangement. However, miscarriages, infertility and/or chromosomally unbalanced offspring can be observed in carriers of a pericentric inversion. This is a case of pericentric inversion of one chromosome 21: inv (21) (p12; q22) in repeated pregnancy loss. A couple was referred for cytogenetic examination due to idiopathic miscarriages. The proband proved to be a carrier of chromosomal inversion and her partner's karyotype was found to be normal. The karyotype of the proband is 46, xx, inv (21) (p12; q22). This abnormal karyotype is reported as a probable reason of miscarriage in the investigated couple. The risk of further miscarriages and the risk of a progeny with abnormal karyotype are rather high. Therefore, amniocenthesis for finding the chromosomal abnormality as a prenatal diagnosis are proposed for the patient if future pregnancy does not lead to miscarriage.

Perisentrik inv(12)(p11.2q14)’nin İnfertilite ve Tekrarlayan Düşüklerle İlişkisi: Vaka Örneği ve Literatür Taraması

“…Most of the pericentric inversions do not affect phenotypes of the individuals carrying balanced rearrangements. However, the pericentric inversions may cause chromosomally unbalanced sperm/ovum during the meiotic crossover leading to infertility or recurrent miscarriages (5). Here, we report a familial pericentric inv(12)(p11.2q14) in eight individuals with infertility or recurrent miscarriages in three different families ( Figure 1).…”

Inversions on human chromosomes

“…Along with the development of a disease due to the interaction of the inversion and the gene, offspring of inversion carriers may develop an unbalanced genome incompatible with life. Such manifestation was reported in case of a mother with inv(21)(p12; q22) who had recurrent miscarriages (Tayebi & Khodaei, 2011).…”