Volume 12, Issue 5 (6-2014)                   IJRM 2014, 12(5): 357-0 | Back to browse issues page

XML Persian Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Baghbani F, Mirzaee S, Hassanzadeh-Nazarabadi M. Association of heteromorphism of chromosome 9 and recurrent abortion (ultrasound diagnosed blighted ovum): A case report. IJRM 2014; 12 (5) :357-0
URL: http://ijrm.ir/article-1-536-en.html
1- Department of Medical Genetics, Faculty of Medicine, Pardis Campus, Mashhad, Iran
2- Department of Medical Genetics, Faculty of Medicine, Pardis Campus, Mashhad, Iran , nazarabadim@mums.ac.ir
Abstract:   (5909 Views)
Background: Chromosomal disorders are the most common cause of first trimester spontaneous abortion. Among the human chromosomes, chromosome no.9 was the most common structural chromosomal variant and it is not thought to be of any functional importance, which often considers as a normal variation in structural polymorphisms, nevertheless there are some studies which claim that there is an association between heteromorphism of chromosome no.9 and some pregnancy complication.
Case: To postulate any correlation between chromosome no. 9 heteromorphism and recurrent abortion, chromosomal analysis was performed on the basis of G-banding technique at high resolution for a couple with the history of 4 ultrasound diagnosed blighted ovum and Chromosome constitution appeared with chromosome no.9 heteromorphism in all 30 metaphases screened for both partners (9p11-q13).
Conclusion: Observation of reproductive failure in couples with heteromorohic pattern of chromosome no.9 suggests that, although the heteromorphism of chromosome no.9 is not a rare condition which often consider as a normal variation with no evidence of any phenotypic effect of patient, nevertheless it seems as if the location of heteromorphic region maybe interfere with meiotic events like the phenomenon of crossing over or miotic segregation of fertilized egg that eventually lead to the development of fertilized eggs with chromosomal abnormalities leading to the possibility of anemberyonic pregnancy, therefore chromosomal analysis for detecting of chromosome no.9 heteromorphism for couples with the history of ultrasound diagnosed blighted ovum will be strongly suggested.
Full-Text [PDF 260 kb]   (805 Downloads) |   |   Full-Text (HTML)  (889 Views)  
Type of Study: Original Article |

References
1. Sotiriadis A, Makrydimas G, Papatheodorou S, Ioannidis JP. Expectant, medical, or surgical management of first-trimester miscarriage: a meta-analysis. Obstet Gynecol 2005; 105: 1104-1113. [DOI:10.1097/01.AOG.0000158857.44046.a4]
2. Albayram F, Hamper UM. "First‐Trimester obstetric emergencies: Spectrum of sonographic findings." J Clin Ultrasound 2002; 30: 161-177. [DOI:10.1002/jcu.10043]
3. Carrell DT, Liu L, Peterson CM, Jones KP, Hatasaka HH, Erickson L, et al. Sperm DNA fragmentation is increased in couples with unexplained recurrent pregnancy loss. Arch Androl 2003; 49: 49-55. [DOI:10.1080/01485010290099390]
4. Azmanov DN, Milachich TV, Zaharieva BM, Michailova GI, Dimitrova VG, Karagiozova ZH, et al. Profile of chromosomal aberrations in different gestational age spontaneous abortions detected by comparative genomic hybridization. Eur J Obstet Gynecol Reprod Biol 2007; 131: 127-131. [DOI:10.1016/j.ejogrb.2006.04.037]
5. Brajenović-Milić B, Petrović O, Krasević M, Ristić S, Kapović M. Chromosomal anomalies in abnormal human pregnancies. Fetal Diagn Ther 1998; 13: 187-191. [DOI:10.1159/000020836]
6. Tibiletti MG, Simoni G, Terzoli GL, Romitti L, Fedele L, Candiani GB. Pericentric inversion of chromosome 9 in couples with repeated spontaneous abortion. Acta Eur Fertil 1981; 12: 245-248.
7. Pandya PP, Snijders RJ, Psara N, Hilbert L, Nicolaides KH. The prevalence of non-viable pregnancy at 10-13 weeks of gestation. Ultrasound Obstet Gynecol 1996; 7: 170-173. [DOI:10.1046/j.1469-0705.1996.07030170.x]
8. Goddijn M, Leschot NJ. Genetic aspects of miscarriage. Baillieres Best Pract Res Clin Obstet Gynaecol 2000; 14: 855-865. [DOI:10.1053/beog.2000.0124]
9. Franssen MT, Korevaar JC, Leschot NJ, Bossuyt PM, Knegt AC, Gerssen-Schoorl KB, et al. Selective chromosome analysis in couples with two or more miscarriages: case-control study. BMJ 2005; 331: 137-141. [DOI:10.1136/bmj.38498.669595.8F]
10. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, et al. DNA sequence and analysis of human chromosome 9. Nature 2004; 429: 369-374. [DOI:10.1038/nature02465]
11. Babu V Rao, Lily Kerketta, Seema Korgaonkar, Kanjaksha Ghosh. Pericentric inversion of chromosome 9[inv(9)(p12q13)]: Its association with genetic diseases. Indian J Hum Genet 2006; 12: 129-132. [DOI:10.4103/0971-6866.29856]
12. Kosyakova N, Grigorian A, Liehr T, Manvelyan M, Simonyan I, Mkrtchyan H, et al. Heteromorphic variants of chromosome 9. Mol Cytogenet 2013; 6: 14. [DOI:10.1186/1755-8166-6-14]
13. Elghezal H, Hidar S, Mougou S, Khairi H, Saâd A. Prevalence of chromosomal abnormalities in couples with recurrent miscarriage. Fertil Steril 2007; 88: 721-723. [DOI:10.1016/j.fertnstert.2006.11.160]
14. Dana M, Stoian V. Association of pericentric inversion of chromosome 9 and infertility in romanian population. Maedica (Buchar) 2012; 7: 25-29.
15. Madon PF, Athalye AS, Parikh FR. Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Online 2005; 11: 726-732. [DOI:10.1016/S1472-6483(10)61691-4]
16. Gianaroli L, Magli MC, Ferraretti AP, Munné S, Balicchia B, Escudero T, et al. Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 2002; [DOI:10.1093/humrep/17.12.3201]
17. 17: 3201-3207. 17.Dewald GW, Michels VV. Recurrent miscarriages: cytogenetic causes and genetic counseling of affected families. Clin Obstet Gynecol 1986; 29: 865-885. [DOI:10.1097/00003081-198612000-00014]
18. Craig-Holmes AP, Moore FB, Shaw MW. Polymporphism of human C-band heterochromatin. II. Family studies with suggestive evidence for somatic crossing over. Am J Hum Genet 1975; 27: 178-189.
19. Franssen MT, Korevaar JC, Tjoa WM, Leschot NJ, Bossuyt PM, Knegt AC, et al. Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage. Prenat Diagn 2008; 28: 408-411. [DOI:10.1002/pd.1960]
20. Farcaş S, Crişan CD, Andreescu N, Stoian M, Motoc AG. Structural chromosomal anomalies detected by prenatal genetic diagnosis: our experience. Rom J Morphol Embryol 2013; 54: 377-383.

Send email to the article author


Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Designed & Developed by : Yektaweb