Partial trisomy 18q11.2 -> qter due to de novo unbalanced translocation

• Main Authors: Semerci, CN, Bahce, M, Atik, F, Candemir, Z, Kiraz, IK, Zorlu, P, Gul, D
• Format: Article in Journal/Newspaper
• Language: English
• Published: EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER 2004
• Subjects: chromosome translocation; fluorescence in situ hybridization; chromosome; 15; partial trisomy 18; sami
• Online Access: http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/11751

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. (C) 2004 Elsevier SAS. All rights reserved. C1 Pamukkale Univ, Morfol Binasi, Sch Med, Dept Med Biol & Genet, TR-20020 Kinikli Denizli, Turkey. Gulhane Mil Med Acad, Dept Genet, Ankara, Turkey. Sch Med, Ankara, Turkey. Dr Sami Ulus Childrens Hosp, Ankara, Turkey. Zubeyde Hanim Matern Hosp, Dept Genet, Ankara, Turkey.