Cytogenetic and clinic evaluation of two cases that have 45,X/46,X,i(Xq) and 46,X,i(Xq) karyotype

Abstract

In this study, cytogenetic and clinic findings of 46,X,i(Xq) and 45,X/46,X,i(Xq) which are the rare types of Turner syndrome are evaluated. Two patients were directed to the Cytogenetic Laboratory from Gynecology Clinic with chromosomal anomaly indication. Their peripheric blood samples are analyzed karyotypically using Giemsa-Tripsin Bantama method. Case 1. The patient is 17 years old, has short height, a low-posterior hairline, short neck, small and wide apart breasts, normal external genitals and underdeveloped internal genitals. Her karyotype was 45,X/46,X,i(Xq). Case 2. The patient is 19 years old, has primer amenore, short height, a low-posterior hairline, wide apart and underdeveloped breasts, normal external genitals, underdeveloped uterus, obscure ovarium. Her karyotype was determined to be 46,X,i(Xq). Although symptoms progress slightly weaker, our 45,X/46,X,i(Xq) and 46,X,i(Xq) cases, which are rare types of Turner Syndrome, are generally consistent with phenotypic findings of Turner syndrome. J Clin Exp Invest 2014; 5 (3): 444-448

Keywords

• Turner syndrome, 45,X/46,XY, 46,X,i(Xq), mosaisizm

45,X/46,X,i(Xq) ve 46,X,i(Xq) Karyotipi gösteren iki olgunun klinik ve sitogenetik yönden değerlendirilmesi

Öz

Bu çalışmada Turner sendromunun nadir görülen tiplerinden 45,X/46,X,i(Xq) ve 46,X,i(Xq) karyotipli iki olgunun sitogenetik ve klinik bulguları değerlendirilmiştir. Kadın Doğum ve Hastalıkları Kliniğinden kromozomal anomali endikasyonu ile Sitogenetik Laboratuvarına yönlendirilen iki hastadan alınan periferik kan örnekleri ile Giemsa-Tripsin Bantama yöntemi ile karyotipik inceleme yapıldı. Olgu 1. Hasta 17 yaşında, kısa boy, düşük saç çizgisi, kısa boyun, göğüsler küçük ve aralıklı, dış genitaller normal ancak iç genitallerde gelişme geriliği var. Hasta 45,X/46,X,i(Xq) karyotipindedir. Olgu 2. Hasta 19 yaşında, primer amenore, kısa boy, düşük saç çizgisi, göğüsler aralıklı ve az gelişmiş. Dış genitaller normal ancak rahim az gelişmiş, yumurtalıklar belirsiz. Hasta 46,X,i(Xq) karyotipindedir. 45,X/46,X,i(Xq) ve 46,X,i(Xq) karyotipli olgularımızın Turner sendromunun fenotipik bulgularıyla genel olarak örtüşmekle beraber semptom ve belirtilerin daha hafif seyrettiğini söyleyebiliriz.

Anahtar Kelimeler

• Turner sendromu, 46,X,i(Xq), mosaisizm

Kaynakça

1. Ranke MB, Saenger P. Turner’s syndrome. Lancet 2001; 358(9278):309-14.
2. Fraser, F. Clarke and Nora, J. James. Sex chromo- somes and the mitochondrial chromosome. Medical Genetics: Principles and Practice. Lea and Febiger. 3rd edition 1989: 54-62.
3. Morgan T. Turner Syndrome: Diagnosis and manage- ment. American family physician 2007;76:405-410.
4. Jacobs P, Dalton P, James R. Turner syndrome: A cytogenetic and molecular study. Ann Hum Genet 1997;61:471-483.
5. Graham GE, Allanson JE, Gerritsen JA. Sex chromo- some abnormalities. In: DL Rimoin, JM Connor, RE Pyeritz, BR Korf Eds. Principles and practice of medi- cal genetics. 5th Edition 2007;1038-1057.
6. Sybert PV, Mc Cauley E. Medical progress, Turner’s syndrome. N Engl J Med 2004;351:1227-38.
7. Schmid W, Naef E, Murset G, Prader A. Cytogenetic findings in 89 cases of Turner’s syndrome with abnor- mal karyotypes. Hum Genet 1974;24:93-104.
8. Van Dyke DL. Isochromosome and interstitial tandem direct and inverted duplications. In: Daniels A. The cy- togenetics of mammalian autosome rearrangements. AR Liss, New York 1988;635-665.

9. ISCN (1995) An International System for Human Cy- togenetic Nomenclature (ed. by F. Mitelman). Basel, Switzerland: Karger.
10. Akbas E, Mutluhan H, Savaşoglu K, et al. Turner Syn- drome and 45,X/47,XXX mosaicism. Genet Couns 2009;20:141-146.
11. Gicquel C, Carbol S, Schneid H, et al. Molecu- lar diagnosis of Turner’s syndrome. J Med Genet 1992;29:547-551.
12. T Kuznetzova, A Baranov, N Schwed, et al. Cytoge- netic and molecular findings in patients with Turner’s syndrome stigmata. Med Genet 1995;32:962-967
13. Jelic S, Marisavljevc D, Turner’s syndrome with mo- saic karyotype and renovascular hypertension. Srp Arh Celok Lek 1997;125:48-50
14. Mühlenstedt D, Bohnet HG, Pawlowitzki IH and Schneider HP. Gonadoblastoma and overgrowing dysgermiboma in Turner mosaicism (45,XO/46,Xi(Xq). Arch Gynecol 1979;28; 227:47-54.
15. Akbas E, Mert Altıntas Z, Karakas Celik S et al. Rare types of Turner syndrome: Clinical presentation and cytogenetics in five cases. Lab Medicine 2012;43:197- 204.
16. Balkan M, Alp N, Yalınkaya A, et al.46,X, i(Xq) Karyo- tipli Varyant Turner Sendromlu: Olgu Sunumu. Dicle Med J 2005;32;149-152.
17. Sonmez S, Sonmez Y, Oztas S. Isochromosome Xq in a girl having delayed puberty. J Turgut Özal Med Center 1997;4:109-111.
18. Catović A. Cytogenetics findings at Turner Syndrome and their correlation with clinical findings. Bosn J Ba- sic Med Sci 2005;5:54-58.
19. Garcia GB, Robles CP, Gonzales VA, et al. Hypothy- roidism and isochromosome X in Turner’s syndrome [in Spanish]. An Esp Pediatr 1991;34:161-162.
20. Santana JAM, Gardner LI, Neu RL. The isochro- mosome-X syndrome [46,Xi(Xq)]: Report of three cases with review of the phenotype. Clin Pediatr 1977;16:1021-1026.
21. Liu WS, Li SY, Yang WC, et al. Dialysis modality for patients with Turner Syndrome and renal failure. Perit Dial Int. 2012;32:230-232.