Rare Structural Chromosomal Abnormalities in Prenatal Diagnosis; Clinical and Cytogenetic Findings on 10125 Prenatal Cases Prenatal Tanıda Nadir Yapısal Kromozom Anomaliler; 10125 Prenatal Olgunun Klinik ve Sitogenetik Bulguları

نویسندگان

  • Havva Serap ToRu
  • Sezin YAkut
  • Zafer Çetİn
  • Mehmet ŞİMŞek
  • İbrahim İnanç MenDİlCİOğlu
  • Havva Serap tORu
  • Sibel BeRkeR
چکیده

Results: A structural chromosomal abnormality was observed in 95 cases. The most frequently observed structural abnormalities were balanced translocations with a frequency of 53.7% (51 cases) followed by unbalanced translocations (16.8%), inversions (11.6%), supernumerary marker chromosomes (8.4%), duplications (4.2%), deletions and ring chromosomes (2.1%) and complex translocation (1.1%). rare structural chromosomal abnormalities including de novo balanced translocations, unbalanced translocations, inversions, duplications, deletions, ring chromosomes, and supernumerary marker chromosomes were detected in 24 cases.

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تاریخ انتشار 2014