Partial trisomy 18q11.2→qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization
Annales de Genetique, cilt.47, sa.4, ss.393-398, 2004 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 47 Sayı: 4
- Basım Tarihi: 2004
- Doi Numarası: 10.1016/j.anngen.2004.03.009
- Dergi Adı: Annales de Genetique
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.393-398
- Anahtar Kelimeler: Chromosome 15, Chromosome translocation, Fluorescence in situ hybridization, Partial trisomy 18
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Hayır
Özet
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.