Publication: A Case with Down Syndrome Presenting 21q22q Translocation: Differential Diagnosis [21q22q Translokasyonu Saptanan Bir Down Sendromu Olgusu]
| dc.contributor.author | Güneş S. | |
| dc.contributor.author | Kara N. | |
| dc.contributor.author | Günal N. | |
| dc.contributor.author | Küçüködük Ş. | |
| dc.contributor.author | Ökten G. | |
| dc.contributor.author | Tural Ş. | |
| dc.contributor.author | Taşkin E. | |
| dc.date.accessioned | 2020-06-21T09:27:17Z | |
| dc.date.available | 2020-06-21T09:27:17Z | |
| dc.date.issued | 2007 | |
| dc.department | OMÜ | en_US |
| dc.department-temp | Güneş, S., Ondokuz Mayis Üniversitesi Tip Fakültesi, Tibbi Biyoloji ABD, Tibbi Genetik BD, Samsun, Turkey -- Kara, N., Ondokuz Mayis Üniversitesi Tip Fakültesi, Tibbi Biyoloji ABD, Tibbi Genetik BD, Samsun, Turkey -- Günal, N., Çocuk Sağliği ve Hastaliklari ABD, Ondokuz Mayis Üniversitesi Tip Fakültesi, Samsun, Turkey -- Küçüködük, Ş., Çocuk Sağliği ve Hastaliklari ABD, Ondokuz Mayis Üniversitesi Tip Fakültesi, Samsun, Turkey -- Ökten, G., Çocuk Sağliği ve Hastaliklari ABD, Ondokuz Mayis Üniversitesi Tip Fakültesi, Samsun, Turkey -- Tural, Ş., Ondokuz Mayis Üniversitesi Tip Fakültesi, Tibbi Biyoloji ABD, Tibbi Genetik BD, Samsun, Turkey -- Taşkin, E., Ondokuz Mayis Üniversitesi Tip Fakültesi, Tibbi Biyoloji ABD, Tibbi Genetik BD, Samsun, Turkey | en_US |
| dc.description.abstract | Robertsonian translocations (ROBs) are the most common chromosomal rearrangemets. ROBs are whole-arm rearrangements between the acrocentric chromosomes chromosomes 13, 14, 15, 21, and 22. ROBs can be classified into 2 groups depending on their frequency of occurrence, common [rob(13q14q) and rob(14q21q)] and rare (all remaining possible nonhomologous combinations). Each of the rare types make up only 0.8% to 3.7% of the total number of ROBs. ROBs involving chromosome 21 are found in approximately 5% of patients with Down syndrome (DS). The most common nonhomologous ROB in DS is rob(14q21q). Rob(21q;22q) is an uncommon ROB. In this case a 4-year-old boy with 21q22q translocation is discussed briefly. The literature about ROBs was reviewed. Copyright © 2007 by Türkiye Klinikleri. | en_US |
| dc.identifier.endpage | 929 | en_US |
| dc.identifier.issn | 1300-0292 | |
| dc.identifier.issue | 6 | en_US |
| dc.identifier.startpage | 928 | en_US |
| dc.identifier.uri | https://hdl.handle.net/20.500.12712/3988 | |
| dc.identifier.volume | 27 | en_US |
| dc.language.iso | tr | en_US |
| dc.publisher | Türkiye Klinikleri | en_US |
| dc.relation.journal | Turkiye Klinikleri Journal of Medical Sciences | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.subject | Down Syndrome | en_US |
| dc.subject | Translocation, Genetic | en_US |
| dc.title | A Case with Down Syndrome Presenting 21q22q Translocation: Differential Diagnosis [21q22q Translokasyonu Saptanan Bir Down Sendromu Olgusu] | en_US |
| dc.type | Article | en_US |
| dspace.entity.type | Publication |