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Article

When Cri du chat syndrome meets Edwards syndrome

  • Authors:
    • Yingjun Xie
    • Yi Zhou
    • Jianzhu Wu
    • Yunxia Sun
    • Yongzhen Chen
    • Baojiang Chen
  • View Affiliations / Copyright

    Affiliations: Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yat‑sen University, Guangzhou, Guangdong 510080, P.R. China, Department of Neonatology, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong 510080, P.R. China
  • Pages: 1933-1938
    |
    Published online on: November 10, 2014
       https://doi.org/10.3892/mmr.2014.2920
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Abstract

It has been well established that the 5p deletion causes Cri du chat syndrome, typically characterized by a cat‑like cry, and that duplication of 18q causes Edwards syndrome; the two are rare genetic abnormalities that separately lead to physical and mental impairments. However, the severity of the clinicopathological characteristics that arise when these two aberrations occur in one patient is unknown. Here, the first case in our knowledge of a single patient (a two‑year‑old female) with 5p partial monosomy and 18q partial trisomy is described. In the present study, chromosome microarray analysis was performed, which identified the imbalance of chromosomes 5 and 18 in the patient. The chromosome aberrations were further confirmed by fluorescence in situ hybridization. By comparing the phenotypes of combined case with those of the individual syndromes, severe clinical phenotypes of the 5p (5p15.33‑p13.3) deletion were confirmed, however, the net effect of the duplication of 18q22.3‑q23 was not determined, as this duplication only appeared to have a weak effect on the patient's phenotypes. The correlation between these chromosomal aberrations and their clinical features has implications for the identification of critical regions of 5p and 18q, particularly for the functional mapping of chromosome 18.
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Copy and paste a formatted citation
Spandidos Publications style
Xie Y, Zhou Y, Wu J, Sun Y, Chen Y and Chen B: When Cri du chat syndrome meets Edwards syndrome. Mol Med Rep 11: 1933-1938, 2015.
APA
Xie, Y., Zhou, Y., Wu, J., Sun, Y., Chen, Y., & Chen, B. (2015). When Cri du chat syndrome meets Edwards syndrome. Molecular Medicine Reports, 11, 1933-1938. https://doi.org/10.3892/mmr.2014.2920
MLA
Xie, Y., Zhou, Y., Wu, J., Sun, Y., Chen, Y., Chen, B."When Cri du chat syndrome meets Edwards syndrome". Molecular Medicine Reports 11.3 (2015): 1933-1938.
Chicago
Xie, Y., Zhou, Y., Wu, J., Sun, Y., Chen, Y., Chen, B."When Cri du chat syndrome meets Edwards syndrome". Molecular Medicine Reports 11, no. 3 (2015): 1933-1938. https://doi.org/10.3892/mmr.2014.2920
Copy and paste a formatted citation
x
Spandidos Publications style
Xie Y, Zhou Y, Wu J, Sun Y, Chen Y and Chen B: When Cri du chat syndrome meets Edwards syndrome. Mol Med Rep 11: 1933-1938, 2015.
APA
Xie, Y., Zhou, Y., Wu, J., Sun, Y., Chen, Y., & Chen, B. (2015). When Cri du chat syndrome meets Edwards syndrome. Molecular Medicine Reports, 11, 1933-1938. https://doi.org/10.3892/mmr.2014.2920
MLA
Xie, Y., Zhou, Y., Wu, J., Sun, Y., Chen, Y., Chen, B."When Cri du chat syndrome meets Edwards syndrome". Molecular Medicine Reports 11.3 (2015): 1933-1938.
Chicago
Xie, Y., Zhou, Y., Wu, J., Sun, Y., Chen, Y., Chen, B."When Cri du chat syndrome meets Edwards syndrome". Molecular Medicine Reports 11, no. 3 (2015): 1933-1938. https://doi.org/10.3892/mmr.2014.2920
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