Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu
Yıl: 2021 Cilt: 74 Sayı: 3 Sayfa Aralığı: 365 - 369 Metin Dili: Türkçe DOI: 10.4274/atfm.galenos.2021.66376 İndeks Tarihi: 19-02-2022
Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu
Öz: Maternal 3. kromozomdaki perisentrik inversiyon nedeniyle ortaya çıkan, 3p26.3-3p26.1 bölgesinde 6.2 Mb boyutunda delesyon, 3q26.33-3q29 bölgesinde ise 18.7 Mb boyutunda duplikasyona sahip rekombinant bir üçüncü kromozom taşıyan ve gelişme geriliği, dismorfik yüz bulguları, strabismus, hirşutizm ile birlikte ventriküler septal defekt nedeniyle operasyon öyküsü bulunan bir olguyu literatürde bildirilen benzer olgular ile genotip-fenotip korelasyonu yaparak sunuyoruz.
Anahtar Kelime: Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance
Öz: We report a boy carrying a recombinant chromosome 3, with deletion of 6.2 Mb from 3p26.3 to 3p26.1 and a duplication of 18.7 Mb from 3q26.33 to 3q29, resulting from a maternal pericentric inversion of the chromosome 3. He had delayed development, dysmorphic facial features, strabismus, hirsutism, and he was operated for ventricular septal defect. Furthermore, we discuss genotype-phenotype correlation with similar cases reported in the literature.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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| APA | Taşdelen E, İLİ E, ALTINER Ş, CEYLAN A, TUNCALI T (2021). Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu. , 365 - 369. 10.4274/atfm.galenos.2021.66376 |
| Chicago | Taşdelen Elifcan,İLİ Ezgi Gökpınar,ALTINER Şule,CEYLAN Ahmet Cevdet,TUNCALI Timur Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu. (2021): 365 - 369. 10.4274/atfm.galenos.2021.66376 |
| MLA | Taşdelen Elifcan,İLİ Ezgi Gökpınar,ALTINER Şule,CEYLAN Ahmet Cevdet,TUNCALI Timur Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu. , 2021, ss.365 - 369. 10.4274/atfm.galenos.2021.66376 |
| AMA | Taşdelen E,İLİ E,ALTINER Ş,CEYLAN A,TUNCALI T Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu. . 2021; 365 - 369. 10.4274/atfm.galenos.2021.66376 |
| Vancouver | Taşdelen E,İLİ E,ALTINER Ş,CEYLAN A,TUNCALI T Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu. . 2021; 365 - 369. 10.4274/atfm.galenos.2021.66376 |
| IEEE | Taşdelen E,İLİ E,ALTINER Ş,CEYLAN A,TUNCALI T "Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu." , ss.365 - 369, 2021. 10.4274/atfm.galenos.2021.66376 |
| ISNAD | Taşdelen, Elifcan vd. "Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu". (2021), 365-369. https://doi.org/10.4274/atfm.galenos.2021.66376 |
| APA | Taşdelen E, İLİ E, ALTINER Ş, CEYLAN A, TUNCALI T (2021). Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu. Ankara Üniversitesi Tıp Fakültesi Mecmuası, 74(3), 365 - 369. 10.4274/atfm.galenos.2021.66376 |
| Chicago | Taşdelen Elifcan,İLİ Ezgi Gökpınar,ALTINER Şule,CEYLAN Ahmet Cevdet,TUNCALI Timur Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu. Ankara Üniversitesi Tıp Fakültesi Mecmuası 74, no.3 (2021): 365 - 369. 10.4274/atfm.galenos.2021.66376 |
| MLA | Taşdelen Elifcan,İLİ Ezgi Gökpınar,ALTINER Şule,CEYLAN Ahmet Cevdet,TUNCALI Timur Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu. Ankara Üniversitesi Tıp Fakültesi Mecmuası, vol.74, no.3, 2021, ss.365 - 369. 10.4274/atfm.galenos.2021.66376 |
| AMA | Taşdelen E,İLİ E,ALTINER Ş,CEYLAN A,TUNCALI T Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu. Ankara Üniversitesi Tıp Fakültesi Mecmuası. 2021; 74(3): 365 - 369. 10.4274/atfm.galenos.2021.66376 |
| Vancouver | Taşdelen E,İLİ E,ALTINER Ş,CEYLAN A,TUNCALI T Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu. Ankara Üniversitesi Tıp Fakültesi Mecmuası. 2021; 74(3): 365 - 369. 10.4274/atfm.galenos.2021.66376 |
| IEEE | Taşdelen E,İLİ E,ALTINER Ş,CEYLAN A,TUNCALI T "Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu." Ankara Üniversitesi Tıp Fakültesi Mecmuası, 74, ss.365 - 369, 2021. 10.4274/atfm.galenos.2021.66376 |
| ISNAD | Taşdelen, Elifcan vd. "Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu". Ankara Üniversitesi Tıp Fakültesi Mecmuası 74/3 (2021), 365-369. https://doi.org/10.4274/atfm.galenos.2021.66376 |
