Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi |
2008, Cilt 22, Sayı 2, Sayfa(lar) 065-068 |
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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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[ Turkish ]
[ Tam Metin ]
[ PDF ]
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