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Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi
2008, Cilt 22, Sayı 2, Sayfa(lar) 065-068
[ Turkish ] [ Tam Metin ] [ PDF ]
Prenatal Diagnosis and Genetic Counselling of Fetus with 46,XY, t(1;12) (p34.1;q24.3) Karyotype
Ebru ETEM, Hüseyin YÜCE
Fırat Üniversitesi Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı, Elazığ-TÜRKİYE
Keywords: Balanced reciprocal translocation, amniocentesis, genetic counselling

In this study, we present the results of a cytogenetic analysis a fetus and mother with balanced reciprocal translocation . Amniocentesis procedure was performed to a patient, who was referred to Firat University Faculty of Medicine, Medical Genetics Department because of increased Trisomy 21 risk after "triple test". There was no problems about couple in reproductive history. The amniocentesis result revealed 46,XY, t(1;12) (p34.1;q24.3) karyotype in fetus. The cytogenetic evaluations of the mother and father were also performed in order to give a robust genetic counselling to the family and the mother was found to carry a balanced translocation; 46,XX, t(1;12) (p34.1;q24.3). The parents decided to give birth to their fetus. The baby was delivered and has shown no phenotypic abnormality in the first year. Genetic counselling and problems encountered with the prediction of the fetal outcome in balanced structural rearrangements are discussed.

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