Pericentric Inversion of Chromosome 9 in Prenatal Diagnosis and Infertility.

Abstract

In order to evaluate the relation between pericentric inversion of chromosome 9 (inv (9)) and clinical problems, the characteristics of inv (9) were investigated on the basis of chromosomal analyses of fetuses and infertile couples. The incidence of such inversion in fetuses with parents having an offspring who suffered from various clinical problems was significantly higher than the basic incidence obtained in fetuses karyotyped by reason of advanced maternal age. In the chromosomal examination of the parents whose fetuses were diagnosed as inv (9), it was revealed that either parent might be the carrier. Furthermore, in the inv (9) carrying fetuses, the number of females was significantly greater than that of males. Analysis of infertile couples revealed that the incidence of such inversion in males was significantly higher than the basic incidence mentioned above. Moreover, infertile couples with an inv(9) carrier showed a significantly higher incidence of intrauterine fetal death, compared with infertile couples with a translocation carrier or those in which the etiology was unknown. These results indicate that inv(9) may often cause clinical problems in offspring of the carrier and infertility with unknown mechanisms related to sex. pericentric inversion of chromosome 9 ; prenatal diagnosis ; infertility ; repeated abortion ; sexual difference Pericentric inversion is one type of chromosomal rearrangement, the detection of which has been greatly facilitated by the development of banding techniques. The site of such inversion of chromosome 9 (inv (9)) is now well known to be heterochromatin.In comparison with pericentric inversion of other chromosomes, pericentric inversion of chromosome 9, the incidence of which has been reported to be about 1% in the general population (Ferguson-Smith 1974;Buckton et al. 1976;Mueller and Klinger 1976), has been categorized as a minor chromosomal rearrangement which does not correlate with abnormal phenotypes

Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review

“…Most clinicians have considered inv (9) to be a benign chromosomal polymorphism [23][24][25]. Uehara et al reported that infertile couples with an inv (9) carrier showed a significantly higher incidence of intrauterine fetal death, compared with infertile couples with a translocation carrier or those in which the etiology was unknown [26]. The inv (9) may often cause clinical problems in offspring of the carrier and infertility with unknown mechanisms related to sex [24].…”

A family with pericentric inversion of chromosome 12

“…increased risk of birth of offspring having Down syndrome (Serra et al, 1990;Uehara et al, 1992). Based on those previous reports, it is suggested that the carriers with pericentric inv(12) do not always suffer from clinical problems but have a relatively high risk of infertility or additional chromosomal abnormalities.…”

“…Boue and Gallano (1984) described that couples with a pericentric inversion ascertained through an infant with unbalanced rearrangement can be considered to be a high risk group for unbalanced offspring. Although pericentric inv(9) is known to be a normal chromosomal variant which does not affect phenotype, this rearrangement has been reported to be related to infertility (Boue et al, 1975;Uehara et al, 1992) and a Vol. 39, No.…”

Chromosomal Heteromorphisms and Karyotype Abnormalities in Humans

“…Visualized polymorphic variations in the length of the centromeric heterochromatin on the long arms of chromosomes 1, 9 and 16 (1qh+/-, 9qh+/-and 16qh+/-) were documented. Distinct polymorphic variants of the size of satellites (ps+) and lengths of stalks (pstk+) of the acrocentric chromosomes (Akbas et al, 2010;, Rao et al, 2006;, Uehara et al, 1992;Kosyakova et al, 2013;Ganguly and Kadam, 2014) were also recorded. The pericentric inversion of chromosomes 9 was considered as a heteromorphism.…”