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Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature

  • Authors:
    • Shaobin Lin
    • Yi Zhou
    • Qun Fang
    • Jianzhu Wu
    • Zhiqiang Zhang
    • Yuanjun Ji
    • Yanmin Luo
  • View Affiliations / Copyright

    Affiliations: Fetal Medicine Center, Department of Obstetrics & Gynecology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China
    Copyright: © Lin et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 5134-5140
    |
    Published online on: October 19, 2016
       https://doi.org/10.3892/mmr.2016.5864
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Abstract

The current study presents the cases of two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10q26 deletion syndrome. High‑resolution single‑nucleotide polymorphism analysis revealed that 10q26 terminal deletions were present in these two patients. The locations and sizes of the 10q26 deletions in these two patients were compared with the locations and sizes of 10q26 deletions in 30 patients recorded in the DECIPHER database and 18 patients characterized in previous studies through chromosomal microarray analysis. The clinical features and locations of the 10q26 deletions of these patients were reviewed in an attempt to map or refine a critical region (CR) for phenotypes. Additionally, the association between previously suggested CRs and phenotypic variability was discussed. The current study emphasize that a distal 10q26 terminal deletion with a breakpoint at ~130 Mb may contribute to the common clinical features of 10q26 deletion syndrome.
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Copy and paste a formatted citation
Spandidos Publications style
Lin S, Zhou Y, Fang Q, Wu J, Zhang Z, Ji Y and Luo Y: Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature. Mol Med Rep 14: 5134-5140, 2016.
APA
Lin, S., Zhou, Y., Fang, Q., Wu, J., Zhang, Z., Ji, Y., & Luo, Y. (2016). Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature. Molecular Medicine Reports, 14, 5134-5140. https://doi.org/10.3892/mmr.2016.5864
MLA
Lin, S., Zhou, Y., Fang, Q., Wu, J., Zhang, Z., Ji, Y., Luo, Y."Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature". Molecular Medicine Reports 14.6 (2016): 5134-5140.
Chicago
Lin, S., Zhou, Y., Fang, Q., Wu, J., Zhang, Z., Ji, Y., Luo, Y."Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature". Molecular Medicine Reports 14, no. 6 (2016): 5134-5140. https://doi.org/10.3892/mmr.2016.5864
Copy and paste a formatted citation
x
Spandidos Publications style
Lin S, Zhou Y, Fang Q, Wu J, Zhang Z, Ji Y and Luo Y: Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature. Mol Med Rep 14: 5134-5140, 2016.
APA
Lin, S., Zhou, Y., Fang, Q., Wu, J., Zhang, Z., Ji, Y., & Luo, Y. (2016). Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature. Molecular Medicine Reports, 14, 5134-5140. https://doi.org/10.3892/mmr.2016.5864
MLA
Lin, S., Zhou, Y., Fang, Q., Wu, J., Zhang, Z., Ji, Y., Luo, Y."Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature". Molecular Medicine Reports 14.6 (2016): 5134-5140.
Chicago
Lin, S., Zhou, Y., Fang, Q., Wu, J., Zhang, Z., Ji, Y., Luo, Y."Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature". Molecular Medicine Reports 14, no. 6 (2016): 5134-5140. https://doi.org/10.3892/mmr.2016.5864
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