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Resiprokal translokasyon (18;20)(pl 1.3;ql 1.2) taşıyan bir olgu

A case w!ıo carries reciprocal translocation (I8;20) (p11.3;qî 1.2}

Journal Name:

  • Selçuk Tıp Dergisi

Publication Year:

  • 2055

Key Words:

Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
Balanced reciprocal translocations are the largest group of chromosomal aberrations responsible for recurrent abortions in couples. A couple, aged 27 and 29years referred for cytogenetic analysis and counseling for five first trimester spontaneous abortions which one of them was a twin. After the chromosomal analyses the women's karyotype was determined normal and the man's was 46,XY,t(!8;20j(p! !.3;g! 1.2). The main cause of the loss of reproduction was tought to be the reason of the unbalanced product of this translocation. The genes localized on the region of this balanced translocation was looked over based on the literature and the risk of unbalanced karyotyped pregnancies were discussed.
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Abstract (Original Language): 
Dengeli resiprokal translokasyoniar, çiftlerde tekrarlayan düşüklerden sorumlu olan kromozoma! düzensizliklerin en büyük grubunu oluşturur. Bir tanesi ikiz olmak üzere beş adet ilk trimester spontan abortusu olan 27 ve 29 yaşında bir çift sitogenetik inceleme ve genetik danışma için gönderildi. Kromozoma! incelemelerden sonra kadının karyotlpinin normal, erkeğin karyotipinin 46,XY,t/!8;20)(p! I.3;gl!.2j olduğu saptandı. Üreme kayıplarının en önemli sebebinin var olan translokasyonun dengelenmemiş ürün/erinden kaynaklanabileceği düşünüldü. Bu dengeli translokasyonda bu bölgeye lokalize genler literatür ışığında gözden geçirilerek denge¬lenmemiş karyotipli gebelik riskleri tartışıldı.
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  • 4
109-111
  • Turkish

REFERENCES

References: 

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