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

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

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