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Case Report 


14q32.31-qter duplication due to a de novo unbalanced translocation: Case report and literature review

Zhour El Amrani, Fatima Ouboukss, Jaber Lyahyai, Niklas Padutsch, Abdelhafid Natiq, Abdelaziz Sefiani.


Abstract
Background: Terminal duplication of the 14q32 region is a rare genetic disorder for which only a limited number of cases have been reported in published literature. This duplication is primarily reported alongside other cytogenetic aberrations. This study presents a Moroccan patient with an isolated de novo subtelomeric rearrangement of 14q32.31-14qter. Methods: We analyzed the patient's isolated DNA and chromosomes, as well as those of her parents. The patient presented with growth retardation and psychomotor delay. We performed clinical exome coverage analysis followed by fluorescence in situ hybridization (FISH). The findings were then compared with those reported in previous literature. Results: Clinical exome sequencing identified a duplication-type copy number variation (CNV) in position chr14:100,238,298-105,470,729 in the patient. This duplication was confirmed by FISH using a subtelomeric probe. FISH analysis also revealed that the patient carries a derivative chromosome der(22)t(14;22)(q32.31;p11.2), resulting in a duplication-type CNV. Parental studies suggested that the chromosomal rearrangement formed de novo. Conclusion: Although clinical exome sequencing revealed the cause of the patient's clinical signs, molecular cytogenetics was necessary to determine the type of underlying chromosomal rearrangement. During genetic counseling, it was discussed that the risk of recurrence depends on whether there is gonadal mosaicism a parent with a balanced translocation t(14;22)(q32.31;p11.2).

Key words: De novo 14q32 duplication; Exome sequencing, Fluorescence in situ hybridization (FISH); Genetic counseling.


 
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How to Cite this Article
Pubmed Style

Amrani ZE, Ouboukss F, Lyahyai J, Padutsch N, Natiq A, Sefiani A. 14q32.31-qter duplication due to a de novo unbalanced translocation: Case report and literature review. ChrSomics. 2026; 1(1): 31-37.

Web Style

Amrani ZE, Ouboukss F, Lyahyai J, Padutsch N, Natiq A, Sefiani A. 14q32.31-qter duplication due to a de novo unbalanced translocation: Case report and literature review. https://chromosomics.org/?mno=328516 [Access: August 13, 2026].

AMA (American Medical Association) Style

Amrani ZE, Ouboukss F, Lyahyai J, Padutsch N, Natiq A, Sefiani A. 14q32.31-qter duplication due to a de novo unbalanced translocation: Case report and literature review. ChrSomics. 2026; 1(1): 31-37.


Vancouver/ICMJE Style

Amrani ZE, Ouboukss F, Lyahyai J, Padutsch N, Natiq A, Sefiani A. 14q32.31-qter duplication due to a de novo unbalanced translocation: Case report and literature review. ChrSomics. (2026), [cited August 13, 2026]; 1(1): 31-37.


Harvard Style

Amrani, Z. E., Ouboukss, . F., Lyahyai, . J., Padutsch, . N., Natiq, . A. & Sefiani, . A. (2026) 14q32.31-qter duplication due to a de novo unbalanced translocation: Case report and literature review. ChrSomics, 1 (1), 31-37.


Turabian Style

Amrani, Zhour El, Fatima Ouboukss, Jaber Lyahyai, Niklas Padutsch, Abdelhafid Natiq, and Abdelaziz Sefiani. 2026. 14q32.31-qter duplication due to a de novo unbalanced translocation: Case report and literature review. ChromoSomics, 1 (1), 31-37.


Chicago Style

Amrani, Zhour El, Fatima Ouboukss, Jaber Lyahyai, Niklas Padutsch, Abdelhafid Natiq, and Abdelaziz Sefiani. "14q32.31-qter duplication due to a de novo unbalanced translocation: Case report and literature review." ChromoSomics 1 (2026), 31-37.


MLA (The Modern Language Association) Style

Amrani, Zhour El, Fatima Ouboukss, Jaber Lyahyai, Niklas Padutsch, Abdelhafid Natiq, and Abdelaziz Sefiani. "14q32.31-qter duplication due to a de novo unbalanced translocation: Case report and literature review." ChromoSomics 1.1 (2026), 31-37. Print.


APA (American Psychological Association) Style

Amrani, Z. E., Ouboukss, . F., Lyahyai, . J., Padutsch, . N., Natiq, . A. & Sefiani, . A. (2026) 14q32.31-qter duplication due to a de novo unbalanced translocation: Case report and literature review. ChromoSomics, 1 (1), 31-37.


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