Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance

Elifcan Taşdelen; Ezgi Gökpınar İli; Şule Altıner; Ahmet Cevdet Ceylan; Timur Tuncalı

doi:10.4274/atfm.galenos.2021.66376

Case Report

Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu

Year 2021, Volume: 74 Issue: 3, 365 - 369, 31.12.2021

Elifcan Taşdelen , Ezgi Gökpınar İli , Şule Altıner , Ahmet Cevdet Ceylan , Timur Tuncalı

https://doi.org/10.4274/atfm.galenos.2021.66376

Abstract

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.

Keywords

3q Duplikasyonu , 3p Delesyonu , Kromozomal Yeniden Düzenlenmeler

Ethical Statement

Informed Consent: Informed consent was obtained from the patients and/or their family/legal guardians. Peer-reviewed: Externally peer-reviewed. Authorship Contributions Data Collection or Processing: E.T., E.G.İ., Ş.A., A.C.C., Analysis or Interpretation: E.T., E.G.İ., Ş.A., A.C.C., T.T., Literature Search: E.T., Writing: E.T., T.T. Conflict of Interest: No conflict of interest was declared by the authors. Financial Disclosure: The authors declared that this study received no financial support.

Supporting Institution

Project Number

Thanks

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