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

Sun,Guowen; Tan,Zhiping; Fan,Liangliang; Wang,Jian; Yang,Yifeng; Zhang,Weizhi

doi:10.3892/mmr.2015.4166

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
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Affiliations: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, P.R. China, Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, P.R. China
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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