Elifcan TAŞDELEN, Ezgi Gökpınar İLİ, Şule ALTINER, Ahmet Cevdet CEYLAN, Timur TUNCALI

Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu

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.

Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance

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.

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