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https://hdl.handle.net/11499/5043
Title: | Partial trisomy 18q11.2›qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization | Authors: | Semerci, Cavidan N. Bahce, M. Atik, F. Candemir, Z. Kiraz, I.K. Zorlu, P. Gül, D. |
Keywords: | Chromosome 15 Chromosome translocation Fluorescence in situ hybridization Partial trisomy 18 article case report chromosome 15 chromosome 18 chromosome disorder chromosome translocation clinical feature comparative study fluorescence in situ hybridization genetic counseling human infant male partial trisomy 18q11.2 pregnancy prenatal diagnosis Chromosome Banding Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 18 Fatal Outcome Humans In Situ Hybridization, Fluorescence Infant Karyotyping Male Translocation, Genetic Trisomy |
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. © 2004 Elsevier SAS. All rights reserved. | URI: | https://hdl.handle.net/11499/5043 https://doi.org/10.1016/j.anngen.2004.03.009 |
ISSN: | 0003-3995 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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