Please use this identifier to cite or link to this item: 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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