Please use this identifier to cite or link to this item:
https://hdl.handle.net/11499/5043
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Semerci, Cavidan N. | - |
dc.contributor.author | Bahce, M. | - |
dc.contributor.author | Atik, F. | - |
dc.contributor.author | Candemir, Z. | - |
dc.contributor.author | Kiraz, I.K. | - |
dc.contributor.author | Zorlu, P. | - |
dc.contributor.author | Gül, D. | - |
dc.date.accessioned | 2019-08-16T11:40:28Z | |
dc.date.available | 2019-08-16T11:40:28Z | |
dc.date.issued | 2004 | - |
dc.identifier.issn | 0003-3995 | - |
dc.identifier.uri | https://hdl.handle.net/11499/5043 | - |
dc.identifier.uri | https://doi.org/10.1016/j.anngen.2004.03.009 | - |
dc.description.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. | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | Annales de Genetique | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Chromosome 15 | en_US |
dc.subject | Chromosome translocation | en_US |
dc.subject | Fluorescence in situ hybridization | en_US |
dc.subject | Partial trisomy 18 | en_US |
dc.subject | article | en_US |
dc.subject | case report | en_US |
dc.subject | chromosome 15 | en_US |
dc.subject | chromosome 18 | en_US |
dc.subject | chromosome disorder | en_US |
dc.subject | chromosome translocation | en_US |
dc.subject | clinical feature | en_US |
dc.subject | comparative study | en_US |
dc.subject | fluorescence in situ hybridization | en_US |
dc.subject | genetic counseling | en_US |
dc.subject | human | en_US |
dc.subject | infant | en_US |
dc.subject | male | en_US |
dc.subject | partial trisomy 18q11.2 | en_US |
dc.subject | pregnancy | en_US |
dc.subject | prenatal diagnosis | en_US |
dc.subject | Chromosome Banding | en_US |
dc.subject | Chromosomes, Human, Pair 15 | en_US |
dc.subject | Chromosomes, Human, Pair 18 | en_US |
dc.subject | Fatal Outcome | en_US |
dc.subject | Humans | en_US |
dc.subject | In Situ Hybridization, Fluorescence | en_US |
dc.subject | Infant | en_US |
dc.subject | Karyotyping | en_US |
dc.subject | Male | en_US |
dc.subject | Translocation, Genetic | en_US |
dc.subject | Trisomy | en_US |
dc.title | Partial trisomy 18q11.2›qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization | en_US |
dc.type | Article | en_US |
dc.identifier.volume | 47 | en_US |
dc.identifier.issue | 4 | en_US |
dc.identifier.startpage | 393 | |
dc.identifier.startpage | 393 | en_US |
dc.identifier.endpage | 398 | en_US |
dc.identifier.doi | 10.1016/j.anngen.2004.03.009 | - |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.pmid | 15581838 | en_US |
dc.identifier.scopus | 2-s2.0-9644287917 | en_US |
dc.identifier.wos | WOS:000226047400010 | en_US |
dc.owner | Pamukkale_University | - |
item.openairetype | Article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.fulltext | No Fulltext | - |
item.languageiso639-1 | en | - |
item.grantfulltext | none | - |
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 |
CORE Recommender
SCOPUSTM
Citations
1
checked on Nov 16, 2024
WEB OF SCIENCETM
Citations
1
checked on Nov 21, 2024
Page view(s)
64
checked on Aug 24, 2024
Google ScholarTM
Check
Altmetric
Items in GCRIS Repository are protected by copyright, with all rights reserved, unless otherwise indicated.