Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization |
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Authors: | Semerci C Nur Bahce Muhterem Atik Fatih Candemir Zuhal Kiraz Isil Kucun Zorlu Pelin Gül Davut |
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Affiliation: | Department of Medical Biology and Genetics, School of Medicine, Pamukkale University, Kinikli/Denizli 20020, Turkey. nsemerci@pamukkale.edu.tr |
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Abstract: | This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation of chromosomes 15 and 18 displaying the features of pure trisomy. This is the first reported case with partial trisomy 18q due to unbalanced translocation between chromosomes 15 and 18. Clinical findings of our case have been compared with the reported cases' had partial trisomy 18q and the importance to recognize the cases with chromosome abnormalities to give genetic counseling and prenatal diagnosis for subsequent pregnancies has emphasized. |
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Keywords: | Chromosome translocation Fluorescence in situ hybridization Chromosome 15 Partial trisomy 18 |
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