Işın KAYA, Y. Selma ÜLKER, Musa SARAÇOĞLU, Tuğba KELEZ

Bir Klinefelter sendromu olgusunda mozaik karyotip

Klinefelter Sendromu en sık rastlanılan seks kromozom anomalisidir. Klinefelter sendromu infertilitenin en sık genetik nedenleri arasındadır. İnfertilite olgularında olası kromozomal anöploidinin saptanması için kromozom analizi altın standarttır. Klinefelter Sendromu bulunan olguların yaklaşık %15’inde karyotip mozaiktir. Kromozomal olarak Klinefelter sendromu tanısı konulan olgularda mutlaka genetik In the cases that are diagnosed with chromosodanışma önerilmektedir. Kromozomal anöplomal Klinefelter’s syndrome, genetic consultancy idisi olan olgular modern üreme teknolojileri ile yardım alabilmektedirler. İnfertil olgumuzda olası kromozom anomalisi nedeniyle periferik kandan kromozom analizi yaptık. Karyotipi 47,XXY 82 /46,XX 16 /46,XY 2 olarak saptadık. Periferik kan ve deri fibroblast hücrelerinde FISH analizi yaparak mozaisizm varlığını doğruladık

Anahtar Kelimeler:

Klinefelter sendromu, infertilite, kromozom analizi, mozaisizm, FISH

Mosaic karyotype in a case of Klinefelter syndrome

Klinefelter Syndrome is the most common sex chromosomal anomaly. Klinefelter syndrome is among the most common genetic causes of infertility. Chromosome analysis for the detection of possible chromosomal aneuploidy in cases of infertility is the gold standard. Approximately 15% of the patients with Klinefelter’s syndrome have mosaic karyotype. In the cases that are diagnosed with chromosomal Klinefelter’s syndrome, genetic consultancy is strictly recommended.Patients with chromosomal aneuploidy can receive help with modern reproductive technologies. We have made chromosome analysis from peripheral blood in our infertile case, because of chromosomal anomaly possibility.We have detected that the karyotype 47,XXY 82 /46,XX 16 /46,XY 2 We confirmed the presence of mosaicism in peripheral blood and skin fibroblast cells by FISH analysis

Keywords:

Klinefelter syndrome, infertility, chromosome analysis, mosaicism, FISH,

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Akashi T, Fuse H, Kojima Y, Hayashi M and Honda S: Birth after intracytoplasmic sperm injection of ejaculated sper- matozoa from a man with mosaic Klinefelter’s syndrome. Asian J Androl 2005;7(2):217-220.
Bergére M, Wainer R, Nataf V, Bailly M, Gombault M, Ville Y, Selva J: Biopsied testis cells of four 47,XXY pati- ents: flouresence in-situ hybridization and ICSI results. 2002;17(1):32-37.
Bhasin Shalender.Approach to the Infertile Man.J Clin En- docrinol Metab 2007;92:1995-2004.
Brugh VM, Lipshultz LI: Male factor infertility Evaluation and management. Med Clin N Am 2004 88:367-385.
Ferlin A, Arredi B, Foresta C.Genetic causes of male inferti- lity.Reproductive Toxicology 2006;22:133-141.
Jacobs PA, Strong JA. A case of human intersexuality ha- ving a possible XXY sew-determinig mechanism. Nature 1959;183:302-303.
Jones LK: Smith’s Recognizable Patterns of Human Malfor- mation. Elsevier Saunders. Philadelphia. 2006;68-69.
Klinefelter HF, Reifenstein EC, Albright F. Syndrome cha- racterized by gynecomastia, aspermatogenesis without Ley- digism, increased excretion of follicle stimulating hormone. J Clin Endocrinl 1942;2:615-627.
Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E:Klinefelter’s syndrome.Lancet 2004;364:273-83.
Laron Z, Dickerman Z, Zamir R, Galatzer A. Paternity in Klinefelter’s Syndrome—A Case Report 1982;8( 2): 149-151.
Lee J.Y, Dada R, Sabanegh E, Carpi A, Agarwai A:Infetility 2011;77:598-601.
Lenz P,Luetjens CM, Kamischke A, Kühnert B, Kennerk- necht I and Nieschlag E: Mosaic Status in lymhocytes of infertile men with or without Klinefelter syndrome. Hum Reprod 2005;20:1248-1255.
Mark H.F.L, Bai H, Sotomayor E, Mark S, Zolnierz K, Airall E, Sigman M: A Variant Klinefelter Syndrome Patient with an XXY/XX/XY Karyotype Studied by GTG-Banding and Fluorescence in Situ Hybridization.Experimental and Mo- lecular Pathology 1999;67:50-56.
Okada H, Fujioka H, Tatsumi N, Kanzaki M, Okuda Y, Fu- jisawa M, Hazama M, Matsumoto O, Gohji K, Arakawa S and Kamidono S:Klinefelter’s syndrome in the male inferti- lity clinic. Hum reprod 1999;14:946-952.
Palermo G, Joris H, Devroey P, Van Steirteghem AC. Preg- nancies after intracytoplasmic injection of single spermato- zoon into an oocyte. Lancet 1992;340(8810):17-18.
Schiff JD, Palermo GD, Veeck LL, Godstein M, Rosenwaks Z and Schlegel PN: Success of Testicular Sperm Injection and Intracytoplasmic Sperm Injection in men with Klinefel- ter Syndrome. J Clin Endocrinol Metab 2005;90(11):6263- 6267.
Seo JT, Park YS, Lee JS.Succesful testicular sperm extracti- on in Korean Klinefelter syndrome.Urology 2004;64:1208- 1211.
Smyth CM and Bremner WJ: Klinefelter Syndrome. Arch Intern Med. 1998;158:1309-1314.
Terzoli G,Lattata F, Lobbiani A.Fertility in a 47,XXY patient:assesment of biological paternity by deoxribonucle- ic acid fingerprinting. Fertil Steril 1992;58:821-22.
Thompson and Thompson. Genetics in Medicine. Sixth Ed Philadelphia. 2000;157-179.
Tournaye H, Staessen C, Liebaers I, Assche E.V, Devroey P, Bounduelle M, Steirteghem A.V:Testicular sperm recovery in nine 47,XXY Klinefelter patients: Human Reproduction 1996; 11(8): 1644-1649.
Velissariou V, Christopoulou S, Karadimas C, Pihos I, Kanaka-Gantenbein C, Kapranos N, Kallipolitis G and Hat- zaki A : Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report. Eur. J. Med. Genet. 2006;49:331-337.
Visootsak J and Graham Jr JM: Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet Journal of Rare Disease 2006;1:42.
Wikström A.M, Dunkel L: Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab. 2011;25:239-250.