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Article

A clinical and molecular analysis of a patient with Emanuel syndrome

  • Authors:
    • Jin‑Wen Luo
    • Huan Yang
    • Zhi‑Ping Tan
    • Ming Tu
    • Hong Luo
    • Yi‑Feng Yang
    • Li Xie
  • View Affiliations / Copyright

    Affiliations: Department of Cardio‑Thoracic Surgery, Hunan Children's Hospital, Changsha, Hunan 410007, P.R. China, Department of Respiratory Medicine, Hunan Provincial People's Hospital, Changsha, Hunan 410001, P.R. China, The Clinical Center for Gene Diagnosis and Therapy of The State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China, The Laboratory of Genetics and Metabolism, Hunan Children's Hospital, Changsha, Hunan 410007, P.R. China, Department of Respiratory Medicine, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China
  • Pages: 1348-1352
    |
    Published online on: January 5, 2017
       https://doi.org/10.3892/mmr.2017.6107
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Abstract

Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment. The karyotype of the patient was 47,XY,+del(22)(q13), and the maternal karyotype was 46,XX,t(11;22)(q25;q13),9qh‑,15p+. Single‑nucleotide polymorphism‑array analysis of the proband indicated a partial duplication of chromosomes 22 and 11 at 22q11.1‑q11.21 and 11q23.3‑q25, respectively, which confirmed the diagnosis of ES. To date, no cases of ES have been reported in mainland China. The present case further emphasizes the necessity and importance of high‑resolution techniques for genetic diagnosis and for subsequent genetic counseling. The present study contributed to the phenotypic delineation of ES and confirmed the first ES patient in mainland China.
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Copy and paste a formatted citation
Spandidos Publications style
Luo JW, Yang H, Tan ZP, Tu M, Luo H, Yang YF and Xie L: A clinical and molecular analysis of a patient with Emanuel syndrome. Mol Med Rep 15: 1348-1352, 2017.
APA
Luo, J., Yang, H., Tan, Z., Tu, M., Luo, H., Yang, Y., & Xie, L. (2017). A clinical and molecular analysis of a patient with Emanuel syndrome. Molecular Medicine Reports, 15, 1348-1352. https://doi.org/10.3892/mmr.2017.6107
MLA
Luo, J., Yang, H., Tan, Z., Tu, M., Luo, H., Yang, Y., Xie, L."A clinical and molecular analysis of a patient with Emanuel syndrome". Molecular Medicine Reports 15.3 (2017): 1348-1352.
Chicago
Luo, J., Yang, H., Tan, Z., Tu, M., Luo, H., Yang, Y., Xie, L."A clinical and molecular analysis of a patient with Emanuel syndrome". Molecular Medicine Reports 15, no. 3 (2017): 1348-1352. https://doi.org/10.3892/mmr.2017.6107
Copy and paste a formatted citation
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Spandidos Publications style
Luo JW, Yang H, Tan ZP, Tu M, Luo H, Yang YF and Xie L: A clinical and molecular analysis of a patient with Emanuel syndrome. Mol Med Rep 15: 1348-1352, 2017.
APA
Luo, J., Yang, H., Tan, Z., Tu, M., Luo, H., Yang, Y., & Xie, L. (2017). A clinical and molecular analysis of a patient with Emanuel syndrome. Molecular Medicine Reports, 15, 1348-1352. https://doi.org/10.3892/mmr.2017.6107
MLA
Luo, J., Yang, H., Tan, Z., Tu, M., Luo, H., Yang, Y., Xie, L."A clinical and molecular analysis of a patient with Emanuel syndrome". Molecular Medicine Reports 15.3 (2017): 1348-1352.
Chicago
Luo, J., Yang, H., Tan, Z., Tu, M., Luo, H., Yang, Y., Xie, L."A clinical and molecular analysis of a patient with Emanuel syndrome". Molecular Medicine Reports 15, no. 3 (2017): 1348-1352. https://doi.org/10.3892/mmr.2017.6107
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