JRI 

Soheila Arefi Corresponding Author
- Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran
Mohammad Hossein Modarresi
1- Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Science, Tehran, Iran
2- Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran
Mahmood Jeddi-Tehrani
- Nanobiotechnology Research Center, Avicenna Research Institute (ACECR), Tehran, Iran
Farah Azizi
- Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran

Received: 7/1/2003 Accepted: 7/1/2003 - Publisher : Avicenna Research Institute

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Abstract

Pericentric inversion of chromosome 9 is a common phenomenon which is considered as normal variant by some cytogeneticists. A phenotipically normal couple was referred for cytogenetic evaluation due to ten recurrent spontaneous abortions and one intrauterine fetal death. The history of infertility, recurrent abortion and intrauterine fetal death were seen in the family and in the first and second degree relatives of the female. Chromosomal analysis from peripheral blood was performed according to standard cytogenetic methods using G-banding and C-banding techniques. Husband’s karyotype was normal. Wife’s karyotype has shown pericentric inversion of chromosome 9,inv(9)(p11-q13). Culture of peripheral blood, umbilical cord, chorionic villi and muscle biopsy were done on the last aborted fetus. Chromosomal study of the fetus revealed 46XY without any significant problem except for elongation of centromeric region of chromosome 9. It seems that pericentric inversion of chromosome 9 is frequently observed in individuals with recurrent abortion, intrauterine fetal death, stillbirth, but as the etiology, the clinical significance is still uncertain and we discuss this issue in our report.


Keywords: Recurrent abortion, Inversion of chromosome 9, Intrauterine fetal death, Infertility


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References

  1. Lee R.M. Silver R.M. Recurrent pregnancy loss, summary and clinical recommendation . Semin Reprod Med. 2000;18(4):433-40.
  2. Salat Baroux J. Recurrent spontaneous abortion. Nutr Dev.1988;28:1555-68.
  3. Toe S.H., Tan M., Knight L., Yeo S.H., Ng I. Pericentric inversion chromosome 9, incidence and clinical significance. Ann Acad Med Singapore. 1995;24(2):302-4.
  4. Yamada K. Population studies of INV (9) chromosome in 4,300Japanese: incidence, sex, difference and clinical significance. Jpn Hum Genet. 1992;37(4):293-301.
  5. Sasiadek M., Haus O., LukasikMajchrowska M., Slezak R., Raproka -Borowicz M., Buza H.,Plewa R., Bullo A., Jagielski A. Cytogenetic analysis in couple with spontaneous abortions. Genikol Pol.1997;68(5A):248-52.
  6. Davalos I.P., Rivas F., Ramos A.L., Galaviz C., Sandoval L., Rivera H. Inv(9) (p24q13) in three sterile brothers. Ann Genet. 2000; 43(1):51-4.
  7. Amiel A., Sardos-Albertini F., Fejgin M.D., Sharony R., Diukman R.,Bartoov B. Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C- heterochromatin. J Hum Genet. 2001;46(5):245-50.
  8. Lyberatou Moraitou E., Grigori Kostaraki P., Retzepopoulou Z.,Kosmaidou –Aravidou Z. Cytogenetics of recurrent abortions. Clin Genet. 1983; 23(4):294-7.
  9. Uehara S., AkaiY., TakeyamaY., Takabayashi T., Okamura K., Yajima A. pericentric inversion of chromosome 9 in prenatal diagnosis and infertility. Tohoko J Exp Med.1992;166(4): 417-27.
  10. Bobrow M. Heterochromatic chromosome variation and reproductive failure. Exp Clin Immuno Genet.1985;2(2):97-105.
  11. Cotter P.D., Babu A., McCurdy L.D., Caggana M., Willner J.P.,Desnick R.J. Homozygosity for pericentric inversion of chromosome 9,prenatal diagnosis of two cases. Ann Genet. 1997;40(4):222-6.
  12. Liu QY., et al. Expression and chrachterisation of a novel human sperm membrane protein. Biol Reprod. 1996;54:323-30.
  13. Miao S.,et al. cDNA encoding a human sperm membrane protein b5 -84. Pyog Natr Sci. 1995; 5:119-122.
  14. Welsh M., et al. SHB is a ubiquitously expressed SRC homology2 protein. Oncogen.1994;9(1):19-27.
  15. Cooper T.G., et al. Gen and protein expression in the epididynis of infertile C-ros receptor Tyrosine Kinase Defient Mice .Biol Reprod.2003;69(5): 1750-62.
  16. Delle Monache S., Flori F., Della Giovampaola C., Capone A., La Sala G.B., Rosati F., Colonna R., Tatone C., Focarelli R. Gp273. The ligand molecule for sperm-egg interaction in the bivalve mollusc, unio elongatulus, binds to and induces acrosome reaction in human spermatozoa through a protein kinase C-dependent pathway.Biol Reprod.2003; 69(6):1779-84.
  17. Reinton N., et al., The gene encoding the C gamma catalytic subunit of CAMP dependent protein kinase is a transcribed Retroposon.Genomics. 1998; 49:290-297.
  18. Bajpai M., Doncel G.F. Involvement of tyrosine kinase and cAMP-dependent kinase cross-talk in the regulation of human sperm motility.Reproduction. 2003;126(2):183-95.
  19. Sasagawa I., Ishigooka M., Kubota Y., Tomaru M., Hashimoto T., Nakada T. Pericentric inversion chromosome 9 in men.Int Urol Nephrol.1998;30 (2):203-7.
  20. Montermini L.,et al. The friedreich ataxia GAA triplet repeat;permutation and normal alleles.Hum Molec Genet.1997;6:1261-6.
  21. Campuzano V., et al. Friedreich’s ataxia , autosomal recessive disease caused by an intronicGAA triplet repeat expansion. Science. 1996;271:1423-27.
  22. Henry S.P., et al. Expression pattern and gene characterization of Asporin:A newly discovered member of the leucine-rich repeat protein family.J Biol Chem. 2001;276:12212-21.
  23. Kladney R.D., et al. CP73, a novel Golgi localized protein upregulated by viral infection. Genet. 2000;249:53-65.
  24. Guichaoua M.R., et al. Miotic behavior of familial pericentric inversion chromosome 1 and 9. Ann Genet. 1986;29(3):207-14.
  25. Babbage S.J et al. Cytokine promotore gene polymorphism and idiopathic recurrent pregnancy loss. J Reprod Immunol. 2001;51(1):21-7.
  26. Unfried G., et al. Interleukin receptor antagonist polymorphism in women with idiopathic recurrent miscarriage. Fertil Steril. 2001;75(4) 683-7.
  27. عارفي سهيلا، جدي‌تهراني محمود، غفاري‌نوين معرفت، صادق‌پور طبائي علي. نگرشي نوين بر سندرم سقط مكرر. انتشارات پژوهشكدة ابن‌سينا و انتشارات تيمورزاده،1382، صفحة 62-45.

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