Volume 5, Issue 2 (7-2007)                   IJRM 2007, 5(2): 7-12 | Back to browse issues page

XML Print

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

Rajangam S, Tilak P, N A, Devi R. Karyotyping and counseling in bad obstetric history and infertility. IJRM. 2007; 5 (2) :7-12
URL: http://ijrm.ssu.ac.ir/article-1-65-en.html
1- Division of Human Genetics, Department Of Anatomy, St. John's Medical College, Bangalore, India , sjmcdhg@yahoo.co.in
2- Division of Human Genetics, Department Of Anatomy, St. John's Medical College, Bangalore, India
Abstract:   (2194 Views)
Background: Division of Human Genetics (DHG) is a referral center for karyotyping and counseling to the couples as well as to the individuals referred with bad obstetric history and infertility.
Materials and Methods: From 1972 to 2003, overall 1666 couples and 131 female partners with bad obstetric history (BOH) such as; spontaneous abortions, live births with congenital malformations and still born and 73 infertile male partners have been referred for chromosomal analysis.
Results: The chromosomal abnormality was found in 4.4% (83) of the sample studied. Chromosomal abnormality was seen in 56 couples (3.4%), 15 female (11.5%) and 12 male (16.4%) partners. The numerical chromosomal abnormality were seen in 34 (41%) and the structural abnormalities in 49 (59%) cases. The numerical chromosomal abnormalities were associated with sex chromosomes as follows (the number of cases are shown in parenthesis): 47, XXY (9); 46, XY/ 47, XXY (2); 46, XY/ 48, XXXY (1); 46, XY/ 47, XYY (2) and X mosaicism; 45, X/ 46, XX (14); 46, XX/ 47, XXX (6). The structural anomalies were 40 translocations and 9 duplication/ deletion/ marker/ iso chromosome for the X chromosome; Male: 46,XY/ 47,XY+ mar (1); Female: 45,X/ 47,XX+mar (1); 46,XX/ 47,XX+mar (1); 47,XX+frag (1); 46,X,Xq- (2); 46,X,Xp- (1); 46,X,Xp+ (1); 45,X/46,X,i(Xq)(1). The frequently involved chromosomes in the translocations were 4, 11, 15 and X. There were three X; autosomal translocations and a unique combination of translocation 1; 15 in the parents of a female carrier and 13; 14 in a non- consanguineous couple. On the whole, 57.5% of the females (23/ 40) were translocation carriers. Non-significant chromosome polymorphisms were observed in 79 cases (4.2%).
Conclusion: The current study has demonstrated the presence of the chromosomal abnormality and its influence in reproductive failure. On an average, in this study one in 56 couple and one in 12 males with infertility or one in 15 females with BOH has had a chromosomal abnormality as the genetic cause. The identification of chromosomal abnormality as the etiology has facilitated the counseling and appropriate management.
Full-Text [PDF 53 kb]   (377 Downloads) |   |   Full-Text (HTML)  (209 Views)  
Type of Study: Original Article |

1. Harper PS. Practical Genetic Counseling. 6th Edition. London, UK, Hodder Arnold 2004: 306-310.
2. Simpson JL, Elias S. Genetics in Obstetrics and Gynecology. Philadelphia, USA: Saunders 2003: 101-132.
3. Mau-Holzmann UA. Somatic chromosomal abnormalities in infertile men and women. Cytogenet Genome Res 2005; 111: 317-336. [DOI:10.1159/000086906]
4. Brigham SA, Conlon C, Farquharson RG. A longitudinal study of pregnancy outcome following idiopathic recurrent miscarriage. Hum Reprod 1991; 14: 2868-2871. [DOI:10.1093/humrep/14.11.2868]
5. Fryns JP, Van Buggenhout G. Structural chromosome rearrangements in couples with recurrent fetal wastage. Eur J Obstet Gynecol Reprod Biol 1998; 81: 171-176. [DOI:10.1016/S0301-2115(98)00185-7]
6. Simpson JL, Bombard AT. Chromosomal abnormalities in spontaneous abortion: frequency, pathology and genetic counseling. In: Edmonds K, Bennett MJ (eds); Spontaneous abortion. London, UK: Blackwell 1987: 51.
7. Shreck R, Silverman N. Fetal loss. In: David L Rimoin, Michael Connor J, Reed E Pyeritz (Eds). 4th Edition. London UK: Churchill Livingstone 2002: 982-997.
8. Neri G, Serra A, Campana M, Tedeschi B. Reproductive risks for translocation carriers: Cytogenetic study and analysis of pregnancy outcome in 58 families. Am J Med Genet 1983; 16: 535-561. [DOI:10.1002/ajmg.1320160412]
9. Reinisch LC, Silvery KL, Dumms KW. Sex chromosome mosaicism in couples with repeated fetal loss. Am J Hum Genet 1981; 33: 117-A.
10. Duca D, Cioltei A, Ioan D, Maximilian C. The importance of cytogenetic investigation of the couples with multiple spontaneous abortions and malformed offsprings. Endocrinologie 1979; 17: 17-22.
11. Andrews T, Roberts DF. Chromosome analyses in couples with repeated pregnancy loss. J Biosoc Sci 1982; 14: 33-52. [DOI:10.1017/S0021932000013845]
12. Tharapel AT, Tharapel SA, Bannerman RM. Recurrent pregnancy losses and parental chromosome abnormalities: a review. Br J Obstet Gynaecol 1985; 92: 899-914. [DOI:10.1111/j.1471-0528.1985.tb03069.x]
13. Tho SP, Byrd JR, McDonough PG. Chromosome polymorphism in 110 couples with reproductive failure and subsequent pregnancy outcome. Fertil Steril 1982; 38: 688-694. [DOI:10.1016/S0015-0282(16)46695-1]
14. Radojcic-Badovinae A, Buretic- Tomljanovic A, Starcevic N, kapovic M, Vlastelic I, Randic L. Chromosome studies in patients with reproductive success. Am J Reprod Immunol 2000; 44: 279-283. [DOI:10.1111/j.8755-8920.2000.440505.x]
15. Duzan F, Atmaca M, Cetin GO, Bagci H. Cytogenetic studies in patients with reproductive failure. Acta Obstet Gynecol Scand 2003; 82: 53-56. [DOI:10.1034/j.1600-0412.2003.820109.x]
16. de Braekeleer M, Dao TN. Cytogenetic studies in couples experiencing repeated pregnancy losses. Hum Reprod 1990; 5: 519-528. [DOI:10.1093/oxfordjournals.humrep.a137135]
17. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, et al. Cytogenetics of infertile men. Hum Reprod 1996; 11: 1-26. [DOI:10.1093/humrep/11.suppl_4.1]
18. Johannisson R, Schwinger E, Wolff HH, vom Ende V, Lohrs U. The effect of 13; 14 Robertsonian translocation on germ-cell differentiation in fertile males. Cytogenet Cell Genet 1993; 63: 151-155. [DOI:10.1159/000133524]
19. Gabriel-Robez O, Rumpler Y. The meiotic pairing behavior in human spermatocytes carrier of chromosome anomalies and their repercussions on reproductive fitness. II Robertsonian and reciprocal translocations. A European collaborative study. Ann Genet 1996; 39: 17-25.
20. Tsenghi C, Metaxotou C, Kalpini-Mavrou A, Strataki-Benetou M, Matsaniotis N. Parental chromosome translocations and fetal loss. Obstet Gynecol 1981; 58: 456-458.
21. Schwartz S, Palmer CG. Chromosomal findings in 164 couples with repeated spontaneous abortions: with special considerations to prior reproductive history. Hum Genet1983; 63: 28-34. [DOI:10.1007/BF00285393]
22. Gorski JL, Kistenmacher ML, Punnett HH, Zackai EH, Emanuel BS. Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. Am J Med Genet 1988; 29: 247-261. [DOI:10.1002/ajmg.1320290202]
23. Bourrouillou G, Colombies P, Dastugue N. Chromosome studies in 2136 couples with spontaneous abortions. Hum Genet 1986; 74: 399-401. [DOI:10.1007/BF00280493]
24. Campana M, Serra A, Neri G. Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations. Am J Med Genet 1986; 24: 341-356. [DOI:10.1002/ajmg.1320240214]
25. Simpson JL. Genetics for the obstetrician-gynecologist: questions and answers. Clin Obstet Gynecol 1976; 19: 981-1003. [DOI:10.1097/00003081-197612000-00023]
26. Portnoi MF, van den Akker J, Le Porrier N, Youssef S, Taillemite JL. A new case of ring chromosome 9. Sem Hop 1983; 59: 185-188.
27. del Porto G, D'Alessandro E, Grammatico P, Coghi IM, DeSanctis S, Giambenedetti M, et al. Chromosome heteromorphisms and early recurrent abortions. Hum Reprod 1993; 8: 755-788. [DOI:10.1093/oxfordjournals.humrep.a138135]

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