Pericentric inversion of chromosome 9 in couples with repeated spontaneous abortion

M. G. Tibiletti, G. Simoni, G. I. Terzoli, L. Romitti, L. Fedele, G. B. Candiani

Research output: Contribution to journalArticlepeer-review


The routine use of banding techniques has shown a marked polymorphism in the centromeric heterochromatin of chromosome 9. Pericentric inversion of this region, inv(9qh), has been observed in about 1% of general population and it does not appear to be correlated with abnormal phenotypes. When this variant occurs, the secondary constriction normally located near the centromere on the long arm is observed on the short arm. Although it is generally considered that such variants have no effect on reproduction, recently a possible correlation between inv(9qh) and aneuploidies in the offspring of carriers has been suggested by several authors. In fact the family tree in cases selected for the presence of inv(9qh) showed trisomic children, couples with repeated spontaneous abortion and couples with sterility. The variant has been detected in 11 subjects out of 132 couples with repeated spontaneous abortion, while only 4 out of the 280 analyzed fetuses showed inv(9qh). The high frequency of this variant found in the group of couples with repeated spontaneous abortion is in agreement with the hypothesis that it may produce a harmful effect on reproduction. On this ground the following concluding remarks may be suggested: 1) Pericentric inversion of chromosome 9 must be carefully investigated with banding techniques and remarked especially in couples with repeated spontaneous abortion. 2) The pedigree of inv(9qh) carriers must be studied with accuracy in order to verify if the presence of other carriers in the family is correlated with reproductive failures.

Original languageEnglish
Pages (from-to)245-248
Number of pages4
JournalActa Europaea Fertilitatis
Issue number3
Publication statusPublished - 1981

ASJC Scopus subject areas

  • Obstetrics and Gynaecology


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