Dengeli resiprokal translokasyonlu bir anne, t(2;6) (q24.1;q27): Olgu sunumu

İnsanlardaki en sık yapısal aberasyon olan resiprokal translokasyonlar, temelde ebevenlerin birisi tarafından geçirilir. Yeniden düzenlenmelerin bu tipi homolog olmayan kromozomlardaki kırılma ve kınlan parçaların resiprokal değişimiyle oluşur. Genellikle sadece iki kromozomla ilgilidir, değişim resiprokal olduğu için toplam kromozom sayısı değişmez. Böyle translokasy onlar genellikle zararsızdır. Ancak, diğer dengeli yapısal yeniden düzenlemeler gibi, dengesiz gametler ve anormal soy için yüksek riskle ilişkilidirler. Burada rapor edilen olgu, 27 yaşında dengeli resiprokal translokasyon taşıyıcısı genç bir kadındı. Olgunun bütün gebelikleri 12. haftadan önce spontan abortuşla sonuçlanmıştı.

Anahtar Kelimeler:

Erişkin, Düşük, kendiliğinden, Translokasyon, genetik, Kromozom sapmaları, Sitogenetik analiz, Kadın

A mother with balancet reciprocal translocation t(2;6) (q24.1;q27): Case report

Reciprocal Translocations, the most frequent structural aberration in humans, are mainly transmitted by one of the parents. This type of rearrangement results from breakage of nonhomologous chromosomes, with reciprocal exchange of the broken-of segments. Usually only two chromosomes are involved, and because the exchange is reciprocal, the total chromosome number is unchanged. Such translocations are usually harmless. However, like other balanced structural rearrangements they are associated with ahigh risk of unbalanced gametes and abnormal progeny. Here we report a carry balanced reciprocal translocation with a 27 years age women. The case has been resulted by all pregnancies end in spontaneous abortions before 12 weeks gestation.

Keywords:

Adult, Abortion, Spontaneous, Translocation, Genetic, Chromosome Aberrations, Cytogenetic Analysis, Female,

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