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. 2024 Apr;12(4):e2429.
doi: 10.1002/mgg3.2429.

Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients

Jianlong Zhuang  1 , Na Zhang  1 , Junyu Wang  1 , Yuying Jiang  1 , Hegan Zhang  2 , Chunnuan Chen  3
Affiliations

Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients

Jianlong Zhuang et al. Mol Genet Genomic Med. 2024 Apr.

Abstract

Background: Limited research has been conducted regarding the elucidation of genotype-phenotype correlations within the 20q13.33 region. The genotype-phenotype association of 20q13.33 microdeletion remains inadequately understood. In the present study, two novel cases of 20q13.33 microdeletion were introduced, with the objective of enhancing understanding of the genotype-phenotype relationship.

Methods: Two unrelated patients with various abnormal clinical phenotypes from Fujian province Southeast China were enrolled in the present study. Karyotype analysis and chromosomal microarray analysis (CMA) were performed to investigate chromosomal abnormalities and copy number variants.

Results: The results of high-resolution G-banding karyotype analysis elicited a 46,XY,der(20)add(20)(q13.3) in Patient 1. This patient exhibited various clinical manifestations, such as global developmental delay, intellectual disability, seizures, and other congenital diseases. Subsequently, a 1.0-Mb deletion was identified in the 20q13.33 region alongside a 5.2-Mb duplication in the 14q32.31q32.33 region. In Patient 2, CMA results revealed a 1.8-Mb deletion in the 20q13.33 region with a 4.8-Mb duplication of 17q25.3. The patient exhibited additional abnormal clinical features, including micropenis, congenital heart disease, and a distinctive crying pattern characterized by a crooked mouth.

Conclusion: In the present study, for the first time, an investigation was conducted into two novel cases of 20q13.33 microdeletion with microduplications in the 17q25.3 and 14q32.31q32.33 regions in the Chinese population. The presence of micropenis may be attributed to the 20q13.33 microdeletion, potentially expanding the phenotypic spectrum associated with this deletion.

Keywords: 14q32.31q32.33 microduplication; 17q25.3 microduplication; 20q13.33 microdeletion; chromosomal microarray analysis; copy number variants.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Karyotype analysis results of the enrolled patients. (a) Patient 1 was subjected to high‐resolution karyotype analysis and the results demonstrated an additional fragment in the 20q13.3 region. The arrow indicates the chromosomal abnormality. (b) Patient 2 was subjected to conventional karyotype analysis, which showed no significant abnormality, with the karyotype described as 46,XY.
FIGURE 2
FIGURE 2
Chromosomal microarray analysis (CMA) results of the enrolled patients. The arrows indicate the abnormal copy number variants regions. (a, b) The CMA results elicited a 5.2‐Mb duplication in the 14q32.31q32.33 region and a 1.0‐Mb deletion in the 20q13.33 region in Patient 1. (c, d) The CMA results demonstrated a duplication of 4.8 Mb in the 17q25.3 region and a 1.8‐Mb deletion in the 20q13.33 region in Patient 2.
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References

    1. Ardalan, A. , Prieur, M. , Choiset, A. , Turleau, C. , Goutieres, F. , & Girard‐Orgeolet, S. (2005). Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20. American Journal of Medical Genetics. Part A, 138A(3), 288–293. - PubMed
    1. Béna, F. , Bottani, A. , Marcelli, F. , Sizonenko, L. D. , Conrad, B. , & Dahoun, S. (2007). A de novo 1.1‐1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features. American Journal of Medical Genetics. Part A, 143A(16), 1894–1899. - PubMed
    1. Béri‐Deixheimer, M. , Gregoire, M. J. , Toutain, A. , Brochet, K. , Briault, S. , Schaff, J. L. , Leheup, B. , & Jonveaux, P. (2007). Genotype‐phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: A collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'. European Journal of Human Genetics, 15(4), 446–452. - PubMed
    1. Han, J. Y. , & Park, J. (2021). A recurrent De novo terminal duplication of 14q32 in Korean siblings associated with developmental delay and intellectual disability, growth retardation, facial Dysmorphism, and cerebral infarction: A case report and literature review. Genes (Basel), 12(9), 1388. - PMC - PubMed
    1. Kearney, H. M. , Thorland, E. C. , Brown, K. K. , Quintero‐Rivera, F. , South, S. T. , & Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee . (2011). American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genetics in Medicine, 13(7), 680–685. - PubMed

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