Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance

Year 2021, Volume: 74 Issue: 3, 365 - 369, 17.09.2021

Elifcan Taşdelen

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

Abstract

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.

Keywords

Duplication of 3q, Deletion of 3p, Chromosomal Rearrangements

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

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Project Number

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Thanks

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Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu

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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