Open Access

1q21.1 microduplication in a patient with mental impairment and congenital heart defect

  • Authors:
    • Guowen Sun
    • Zhiping Tan
    • Liangliang Fan
    • Jian Wang
    • Yifeng Yang
    • Weizhi Zhang
  • View Affiliations

  • Published online on: July 31, 2015     https://doi.org/10.3892/mmr.2015.4166
  • Pages: 5655-5658
  • Copyright: © Sun et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

1q21.1 duplication is a rare copy number variant with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described a Chinese female patient (age, four years and eight months) with multiple malformations, including congenital heart defect, mental impairment and developmental delay. The parents and the monozygotic twin sister of the patient, however, were physically and psychologically normal. High‑resolution genome‑wide single nucleotide polymorphism array revealed a 1.6‑Mb duplication in chromosome region 1q21.1. This chromosome region contained HFE2, a critical gene involved in hereditary hemochromatosis. However, the parents and monozygotic twin sister of the patient did not carry this genomic lesion. To the best of our knowledge, the present study was the first to report on a 1q21.1 duplication patient in mainland China.
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October-2015
Volume 12 Issue 4

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Copy and paste a formatted citation
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Spandidos Publications style
Sun G, Tan Z, Fan L, Wang J, Yang Y and Zhang W: 1q21.1 microduplication in a patient with mental impairment and congenital heart defect. Mol Med Rep 12: 5655-5658, 2015.
APA
Sun, G., Tan, Z., Fan, L., Wang, J., Yang, Y., & Zhang, W. (2015). 1q21.1 microduplication in a patient with mental impairment and congenital heart defect. Molecular Medicine Reports, 12, 5655-5658. https://doi.org/10.3892/mmr.2015.4166
MLA
Sun, G., Tan, Z., Fan, L., Wang, J., Yang, Y., Zhang, W."1q21.1 microduplication in a patient with mental impairment and congenital heart defect". Molecular Medicine Reports 12.4 (2015): 5655-5658.
Chicago
Sun, G., Tan, Z., Fan, L., Wang, J., Yang, Y., Zhang, W."1q21.1 microduplication in a patient with mental impairment and congenital heart defect". Molecular Medicine Reports 12, no. 4 (2015): 5655-5658. https://doi.org/10.3892/mmr.2015.4166