46, XY, t(10;17) (p13;q22 ) Resiprokal translokasyon ve tekrarlayan gebelik kayıpları: Olgu Sunumu

Yıl 2019, Cilt: 12 Sayı: 3, 561 - 566, 31.12.2019

Badel Arslan , Mehmet Sarı , Adnan Selim Kimyon Nurcan Aras

https://doi.org/10.26559/mersinsbd.580084

Öz

TGK (Tekrarlayan Gebelik Kaybı) etiyolojisinde rol oynayan
faktörlerin % 50’si genetiktir. Resiprokal translokasyonlar kromozomal yeniden
düzenlenmelerdir. Dengeli resiprokal translokasyon taşıyıcıları % 50 oranında
dengesiz genetik materyal içeren gametler oluşturmakta ve bu durum TGK’ ya veya
konjenital anomalilere neden olmaktadır. TGK öyküsü ile Mersin Üniversitesi
Hastanesi üroloji kliniğine başvuran probandın eşinde 8. haftada embriyonik
gelişimin durması nedeniyle dört küretaj öyküsü vardı, bir sağlıklı çocuğa
sahipti. Laboratuvarımıza yönlendirilen hastanın pedigrisi alındıktan sonra
sitogenetik analizi yapıldı. Probandın
46,XY,t(10;17)(p13;q22) dengeli resiprokal translokasyon taşıyıcısı olduğu
tespit edildi. Translokasyona uğrayan 17q22àqter bölgesinde proteine kodlanan 606 gen bulunmaktadır.
Bunlardan bazıları, CDK3 (Cyclin-Dependent Kinase 3; Cell Division Kinase 3), GAA (Gluosidase, Alpha, Acid) ve GRB2 (Growth
Factor Receptor- Bound Protein 2) gibi embriyonik gelişimde ve hücre
metabolizmasında önemli rol oynayan genlerdir. Probandın gametlerine dengesiz
genetik materyal aktarılması durumunda embriyo bu bölgede kodlanan genler
açısından monozomik veya trizomik olacaktır. Bu durumda embriyo gelişimi
durmakta ve gebelik abortus ile sonuçlanmaktadır.

Anahtar Kelimeler

Tekrarlayan gebelik kaybı, Resiprokal translokasyon, t(10;17), Karyotip analizi

46, XY, t(10;17) (p13;q22 ) reciprocal translocation and recurrent pregnancy loss: Case report

Öz

50% of the genetic factors that play a role in the etiology of
Recurrent Pregnancy Loss (RPL). Reciprocal translocations are chromosomal
rearrangements. Balanced reciprocal translocation carriers produce gametes
containing 50% of unstable genetic material, leading to RPL or congenital
anomalies. Proband who admitted to Mersin University Hospital Urology Clinic
with a history of RPL in his wife. She has four curettage histories due to
cessation of embryonic development at 8 weeks. Also they have one healthy
child.  Cytogenetic analysis was performed after pedigree of the
patient who was referred to our laboratory. Proband 46, XY, t (10; 17) (p13;
q22) was found to be a balanced reciprocal translocation carrier. There are 606
genes encoded into the protein in the 17q22àqter region that has been translocated. Some of these are
genes that play an important role in embryonic development and cell metabolism
such as CDK3 (Cyclin-Dependent Kinase 3; Cell Division Kinase 3), GAA (Gluosidase, Alpha, Acid) and GRB2 (Growth Factor
Receptor- Bound Protein 2). If
unbalanced genetic material is transferred to the gametes of the probe, the
embryo will be monosomic or trisomic for the genes encoded in this region. In
this case, embryo development stops and pregnancy results in abortion.

Anahtar Kelimeler

Recurrent loss of pregnancy, Reciprocal Translocation, t(10;17), Karyotype analyzes

Kaynakça

• 1. Beksaç S, Demir N, Koç A, Yüksel A. Erken gebelik problemleri ve düşükler. Obstetrik, Maternal - Fetal Tıp ve Perinatoloji, 1. baskı, Ankara, Medikal & Nobel, 2001;1076–85.
• 2. Wilcox AJ, Weinberg CR, O’Connor JF, et al. Incidence of early loss of pregnancy. N Engl J Med 1988;319:189–94.
• 3. Jacobs PA, Hassold T. Chromosome abnormalities: origin and etiology in abortions and livebirths. In: Vogel F, Sperling K, eds. Human Genetics. Berlin: Springer-Verlag; 1987;233–44.
• 4. Clifford K, Rai R, Regan L. Future pregnancy outcome in unexplained recurrent first trimester miscarriage. Hum Reprod 1997;12:387–9.
• 5. Simon L, Proutski I, Stevenson M, Jennings D, McManus J, Lutton D, Lewis SE. Sperm DNA damage has negative assosation with live birth rates after IVF. Reprod Biomed Online 2013; 26:68-78.
• 6. Demirhan O, Tastemir D: Partial trisomy 1p due to paternal t(1;9) translocation in a family with recurrent miscarriages . Fertil Steril, 2006;86(1):219.e15-9.
• 7. Chen CP, Wu PC, Lin CJ, Chern SR, Tsai FJ, Lee CC, Town DD, Chen WL, Chen LF, Lee MS, Pan CW, Wang W. Unbalanced reciprocal translocations at amniocentesis. Taiwanase Jour Of Obstet&Gyn 2011;50;48-57.
• 8. Kurahashi H, Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS. The constitutional t(11;22): İmplications for a novel mechanism responsible for gross chromosomal rearrangements. Clinical Genetics ,2000;78: 229-309.
• 9. Haidl G., Peschka B., Schwanitz G., Montag M., van der Ven K., van der Ven H. Cytogenetic and andrological status and ICSIresults in couples with severe male factor infertility. Asian J Androl, 2000;2: 293-296.
• 10. Moorhead PS, Nowellman WJ, Battıps DM, Hungerford DA. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res, 1960: 20:613-6.
• 11. Morel F, Roux C, Bresson JL. FISH analysis of chromosomal status of spermatozoa from three men with 45,XY,der(13;14)9q10;q10) karyotype. Mol Human Reprod 2001; 7:483–488.
• 12. Sugiura-Ogasawara M, Ozaki Y, Sato T, et al. Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations. Fertil Steril 2004; 81:367–373.
• 13. Li TC, Makris M, Tomsu M, et al. Recurrent miscarriage: aetiology, management and prognosis. Hum Reprod Update 2002; 8:463–481.
• 14. Cemal EKİCİ. Preimplantasyon Genetik Tanı. İnönü Üniversitesi Sağlık Bilimleri Dergisi 2014; 3 (2): 49-53.
• 15. https://www.ncbi.nlm.nih.gov/omim/?term=17. Erişim Tarihi: 10/06/2019.
• 16. https://omim.org/entry/123828. Erişim Tarihi: 10/06/2019.