Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance
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.
References
- 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.