SavedAdd your journal

Journals / Ankara Üniversitesi Tıp Fakültesi Mecmuası / 2021 / Cilt: 74 - Sayı: 3

Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance

Kromozom 3 Dengesizliği Olan Bir Olgunun Genotip Fenotip Korelasyonu

Elifcan TAŞDELEN
Ezgi Gökpınar İLİ
Şule ALTINER
Ahmet Cevdet CEYLAN
Timur TUNCALI
Pages
365–369
Publication Date
2022-10-10
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Furthermore, we discuss genotype-phenotype correlation with similar cases reported in the literature.

📌 3 Key Takeaways

🎯
Objective & Hypothesis: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.
📊
Key Findings & Data:He had delayed development, dysmorphic facial features, strabismus, hirsutism, and he was operated for ventricular septal defect.
💡
Conclusion & Impact:Furthermore, we discuss genotype-phenotype correlation with similar cases reported in the literature.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

Özet

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.

🔖

Cite This Article

TAŞDELEN, E., İLİ, E. G., ALTINER, Ş., CEYLAN, A. C., TUNCALI, T. (2022). Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance. Ankara Üniversitesi Tıp Fakültesi Mecmuası, Cilt: 74 - Sayı: 3, 365–369. https://ajindex.com/articles/443480

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (15)

  1. Chen CP, Su YN, Hsu CY, et al. Mosaic deletion-duplication syndrome of chromosome 3: prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy. Taiwan J Obstet Gynecol. 2011;50:485-491
  2. Iacoboni D, Kady N, Gregoire-Bottex M, et al. De novo duplication 3q in an infant with a vascular ring and features overlapping Cornelia de Lange phenotype. Case Reports in Clinical Medicine. 2013;2:48-52
  3. Hu T, Desai JP. Soft-tissue material properties under large deformation: strain rate effect. Conf Proc IEEE Eng Med Biol Soc. 2004;2004:2758-2761
  4. Faas BH, De Vries BB, Van Es-Van Gaal J, et al. A new case of dup(3q) syndrome due to a pure duplication of 3qter. Clin Genet. 2002;62:315-320
  5. Sims K, Mazzaschi RL, Payne E, et al. A rare chromosome 3 imbalance and its clinical implications. Case Rep Pediatr. 2012;2012:846564
  6. Shuib S, McMullan D, Rattenberry E, et al. Microarray based analysis of 3p25-p26 deletions (3p- syndrome). Am J Med Genet A. 2009;149A:2099- 2105
  7. Wellenreuther M, Bernatchez L. Eco-Evolutionary Genomics of Chromosomal Inversions. Trends Ecol Evol. 2018;33:427-440
  8. Cunha KS, Simioni M, Vieira TP, et al. Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito. Genet Mol Biol. 2016;39:35-39
  9. Dworschak GC, Crétolle C, Hilger A, et al. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2. Clin Genet. 2017;91:661-671
  10. Abreu-González M, García-Delgado C, Cervantes A, et al. Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13) (q26.2;p11.2): Further Delineation of 3q Duplication Syndrome. Case Rep Genet. 2013;2013:895259
  11. Ireland M, English C, Cross I, et al. Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype. J Med Genet. 1995;32:837-838
  12. Aqua MS, Rizzu P, Lindsay EA, et al. Duplication 3q syndrome: molecular delineation of the critical region. Am J Med Genet. 1995;55:33-37
  13. Battaglia A, Novelli A, Ceccarini C, et al. Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis. Am J Med Genet A. 2006;140:144-150
  14. Türkmen M, Kasap B, Soylu A, et al. Paracellin-1 gene mutation with multiple congenital abnormalities. Pediatr Nephrol. 2006;21:1776-1778
  15. Rodríguez L, Bhatt SS, García-Castro M, et al. A unique case of a discontinuous duplication 3q26.1-3q2