Volume 10, Issue 2 (7-2012)                   IJRM 2012, 10(2): 141-148 | Back to browse issues page

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Jouyan N, Davoudi Dehaghani E, Senemar S, Shojaee A, Mozdarani H. Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran. IJRM 2012; 10 (2) :141-148
URL: http://ijrm.ir/article-1-260-en.html
Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran
Najmeh Jouyan * 1, Elham Davoudi Dehaghani2 , Sara Senemar2 , Ashraf Shojaee2 , Hossein Mozdarani3
1- Human Genetic Research Group, Iranian Academic Center for Education, Culture and Research, Fars Province Branch, Shiraz, Iran , Jooyagene@yahoo.com
2- Human Genetic Research Group, Iranian Academic Center for Education, Culture and Research, Fars Province Branch, Shiraz, Iran
3- Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
Abstract:   (4599 Views)
Background: Chromosome abnormality (CA) including Sex chromosomes abnormality (SCAs) is one of the most important causes of disordered sexual development and infertility. SCAs formed by numerical or structural alteration in X and Y chromosomes, are the most frequently CA encountered at both prenatal diagnosis and at birth.
Objective: This study describes cytogenetic findings of cases suspected with CA referred for cytogenetic study.
Materials and Methods: Blood samples of 4151 patients referred for cytogenetic analysis were cultured for chromosome preparation. Karyotypes were prepared for all samples and G-Banded chromosomes were analyzed using x100 objective lens. Sex chromosome aneuploidy cases were analyzed and categorized in two groups of Turners and Klinefelter’s syndrome (KFS).
Results: Out of 230 (5.54%) cases with chromosomally abnormal karyotype, 122 (30%) cases suspected of sexual disorder showed SCA including 46% Turner’s syndrome, 46% KFS and the remaining other sex chromosome abnormalities. The frequency of classic and mosaic form of Turner’s syndrome was 33% and 67%, this was 55% and 45% for KFS, respectively.
Conclusion: This study shows a relatively high sex chromosome abnormality in this region and provides cytogenetic data to assist clinicians and genetic counselors to determine the priority of requesting cytogenetic study. Differences between results from various reports can be due to different genetic background or ethnicity.
Keywords: Sex chromosome abnormality, Disorders of sexual development, South of Iran, Infertility, Cytogenetic.
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References
1. Akgul M, Ozkinay F, Ercal D, Cogulu O, Dogan O, Altay B, et al. Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: report and review. J Assist Reprod Genet 2009; 26: 119-122. [DOI:10.1007/s10815-009-9296-8]
2. Alkhalaf M, Verghese L, Muharib N. Cytogenetic study of Kuwaiti couples with infertility and reproductive disorders: short arm deletion of chromosome 21 is associated with male infertility. Ann Genet 2002; 45: 147-149. [DOI:10.1016/S0003-3995(02)01110-3]
3. Salahshourifar I, Sadeghi gilani MA, Masoudi NS, Gourabi H. Chromosomal Abnormalities in Male who are Candidates far Assisted Reproductive Techniques. Iran J Infertil Steril 2007: 1: 75-79.
4. Thielemans BF, Spiessens C, D'Hooghe T, Vanderschueren D, Legius E. Genetic abnormalities and male infertility. A comprehensive review. Eur J Obstet Gynecol Reprod Biol 1998; 81: 217-225. [DOI:10.1016/S0301-2115(98)00194-8]
5. Foresta C, Ferlin A, Gianaroli L, Dallapiccola B. Guidelines for the appropriate use of genetic tests in infertile couples. Eur J Hum Genet 2002; 10: 303-312. [DOI:10.1038/sj.ejhg.5200805]
6. Papanikolaou EG, Vernaeve V, Kolibianakis E, Assche EV, Bonduelle M, Liebaers I, et al. Is chromosome analysis mandatory in the initial investigation of normovulatory women seeking infertility treatment? Hum Reprod 2005; 20: 2899-2903. [DOI:10.1093/humrep/dei151]
7. Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Emery and Rimoin's Principles and Practice of Medical Genetics 5th Ed. Philadelphia; PA, Churchill Livingstone Elsevier; 2006.
8. Balkan M, Akbas H, Isi H, Oral D, Turkyilmaz A, Kalkanli S, et al. Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey. Genet Mol Res 2010; 11: 1094-1103. [DOI:10.4238/vol9-2gmr827]
9. Al Husain M, Zaki OK. A survey of 1,000 cases referred for cytogenetic study to King Khalid University Hospital Saudi Arabia. Hum Hered 1999; 49: 208-214. [DOI:10.1159/000022877]
10. Iravathy GoudK, Vimarsh R, Sohani V, Chadha Geeta. Cytogenetics and genetic counseling of patients in North India. JK Science 2006; 8: 28-30.
11. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford D. Chromosome preparations of leucocytes cultured from human peripheral blood. Exp Cell Res 1960; 20: 613-616. [DOI:10.1016/0014-4827(60)90138-5]
12. Seabright M. A rapid banding technique for human chromosomes. Lancet 1971; 2: 971-972. [DOI:10.1016/S0140-6736(71)90287-X]
13. Shah VC, Murthy DS, Murthy SK. Cytogenetic studies in a population suspected to have chromosomal abnormalities. Ind J Pediatr 1990; 57: 235-243. [DOI:10.1007/BF02722094]
14. Jyothy KSD, Kumar M, Swarna M, Raja Sekhar B, Devi U, Reddy PP. Cytogenetic Investigations in 1843 Re ferral Cases of Disordered Sexual Development From Andhra Pradesh. IJHG 2002; 2: 55-59. [DOI:10.1080/09723757.2002.11885785]
15. Brum JM. Estudo nosológico, clínico e etiológico de pacientes com atraso do desenvolvimento psico-motor, retardo mental e/ou regressão neurológica em hospital de doenças do aparelho locomotor. PhD thesis, Universidade de Brasília, Brasília, DF, Brazil; 1999.
16. Kumar P, Radhakrishnan J, Chowdhary MA, Giampietro PF. Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department. Mayo Clin Proc 2001; 76: 777-783. [DOI:10.1016/S0025-6196(11)63220-5]
17. Akbari MT, Behjati F, Ashtiani Khaleghian M. Chromosomal abnormalities in a referred population: a report of 383 Iranian. Acta Medica Iranica 1998; 36: 64-69.
18. Kim SS, Jung SC, Kim HJ, Moon HR, Lee JS. Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases. J Korean Med Sci 1999; 14: 373-376. [DOI:10.3346/jkms.1999.14.4.373]
19. Kim YJ, Oh JS, Song W, Uh Y, Kang MS, Yoon KJ. Analysis of 352 cases for cytogenetic study. KJCP 1991; 11: 655-660.
20. Santos CB, Boy JM, Silva MPS, Pimentel MMG Chromosomal investigations in patients with mental retardation and/or congenital malformations. Genet Mol Biol 2000; 23: 703-707. [DOI:10.1590/S1415-47572000000400002]
21. Singh DN. Cytogenetic study of individuals suspected of chromosome anomalies. Clin Pediatr (Phila) 1977; 16: 619-622. [DOI:10.1177/000992287701600707]
22. Duarte AC, Cunha AC, Roth JM, Ferreira1 FLS, Garcias GL, Martino-Roth MG. Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil. Genet Mol Res 2004; 3: 303-308.
23. Carson SA. FISH Detects Mosaic Cell Lines in Patients with Turner Syndrome. J Watch Women's Health 2004; 4: 9.
24. Linden MG, Bender BG, Robinson A. Genetic counseling for sex chromosome abnormalities. Am J Med Genet 2002; 110: 3-10. [DOI:10.1002/ajmg.10391]
25. Jacobs PA. The incidence and etiology of sex chromosome abnormalities in man. Birth Defects Orig Artic Ser 1979; 15: 3-14.
26. Hsu LYF. Prenatal diagnosis of chromosome abnormalities. In: Milunsky A, editor. Genetic disorders and the fetus, 2nd Ed. New York; Plenum Press; 1986: 15-183. [DOI:10.1007/978-1-4684-5155-9_5]
27. Medscape. Klinefelter syndrome. Available at: Http: //emedicine.medscape.com/article/945649 overview. Accessed Jul 26 2011.
28. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter's syndrome. Lancet 2004; 364: 273-283. [DOI:10.1016/S0140-6736(04)16678-6]
29. Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA. Mortality in women with turner syndrome in Great Britain: a national cohort study. J Clin Endocrinol Metab 2008; 93: 4735-4742. [DOI:10.1210/jc.2008-1049]
30. Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA. United Kingdom Clinical Cytogenetics Group. Mortality in patients with Klinefelter syndrome in Britain: a cohort study. J Clin Endocrinol Metab 2005; 90: 6516-6522. [DOI:10.1210/jc.2005-1077]
31. Kaur A, Mahajan S, Singh JR. Cytogenetic Analysis in Cases with Sex Anomalies. Int J Hum Genet 2004; 4: 167-171. [DOI:10.1080/09723757.2004.11885887]
32. Salek M, Okhovvat AR, Sadeghi M, Roohafza HR, Kelishadi R, Memar Ardestani P, et al. Health problems in Turner syndrome. JRMS 2007; 12: 90-95.
33. Saleh gargari S, Nan Bakhsh F, Omrani MD. Clinical and genetics in patients with turner syndrome in patients referring to urmia university genetics clinics. Iran J Med Sci 2007; 18: 589-594.
34. Hassanzadeh Nazarabadi M, Seyyedi SA, Aboutorabi R. Effects of Karyotype Variations on Phenotype of Patients with Turner Syndrome. Iran J Med Sci 2005; 30: 4-182.
35. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991; 87: 81-83. [DOI:10.1007/BF01213097]
36. Kammoun I, Chaabouni M, Trabelsi M, Ouertani I, Kraoua L, Chelly I, et al. Genetic analysis of Turner syndrome: 89 cases in Tunisia. Ann Endocrinol (Paris) 2008; 69: 440-445. [DOI:10.1016/j.ando.2008.01.007]
37. Wiktor AE, Van Dyke DL. Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients. Am J Med Genet A 2005; 15; 259-261. [DOI:10.1002/ajmg.a.30954]
38. Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, et al. Mosaicism in 45, X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet 1992; 88: 288-294. [DOI:10.1007/BF00197261]
39. Abulhasan SJ, Tayel SM, al-Awadi SA. Mosaic Turner syndrome: cytogenetics versus FISH. Ann Hum Genet 1999; 63: 199-206. [DOI:10.1046/j.1469-1809.1999.6330199.x]
40. Tan KB, Yeo GS. Pattern of Turner syndrome in Singapore (1999-2004). Singapore Med J 2009; 50: 587-590.
41. Nucaro AL, Melis P, Casini MR, Rossino R, Cau M, Melis MA, et al. Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea (X;X) (p22.3;p22.3). J Appl Genet 2008; 49: 301-303. [DOI:10.1007/BF03195627]
42. Hovatta O, Hreinsson J, Fridström M. Birgit Borgström. Fertility and pregnancy aspects in Turner syndrome. International Congress Series 1298; 2006: 185-189. [DOI:10.1016/j.ics.2006.06.004]
43. Abir R, Fisch B, Nahum R, Orvieto R, Nitke S, Ben Rafael Z. Turner's syndrome and fertility: current status and possible putative prospects. Hum Reprod Update 2001; 7: 603-610. [DOI:10.1093/humupd/7.6.603]
44. Abdelmoula NB, Amouri A, Portnoi MF, Saad A, Boudawara T, Mhiri MN, et al. Cytogenetics and fluore scence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome Arch. Intern Med 1998, 158: 1309-1314.
45. Vasu V, Chandra N, Jayashankar M, Santhiya ST. Klinefelter variant mosaic with a reciprocal translocation t (1;7). Fertil Steril 2008; 90: 2017:15-17.
46. Kamischke A, Baumgardt A, Horst J, Nieschlag E. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 2003; 24: 41-48.
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