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Article

Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families

  • Authors:
    • Linhuan Huang
    • Yingjun Xie
    • Yi Zhou
    • Yanmin Luo
    • Xuan  Huang
    • Zhe Xu
    • Danlei Cai
    • Qun Fang
  • View Affiliations / Copyright

    Affiliations: Fetal Medicine Centre, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China, Division of Cardiac Surgery, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China, Department of Ultrasonic Medicine, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China
  • Pages: 823-828
    |
    Published online on: January 21, 2015
       https://doi.org/10.3892/etm.2015.2200
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Abstract

The phenotypic variability associated with 22q11.2 deletion syndrome (22q11.2DS) is well known. In the present study, the cases of three unrelated adult patients with chromosome 22q11.2DS and nearly normal features are described, along with their reproductive histories. Chromosomal analysis with fluorescent in situ hybridisation and genomic DNA analysis by microarrays were performed, as well as a clinical examination. The three patients were found to possess an identical breakpoint deletion at 22q11.2 by high‑density whole‑genome single nucleotide polymorphism microarray analysis. The patients had histories of two foetuses/infants with congenital heart defects. The underlying aetiology for the discordance in the phenotype in these patients is discussed. These observations provide additional data useful for patient counselling and guidelines for 22q11.2 clinical screening.
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Copy and paste a formatted citation
Spandidos Publications style
Huang L, Xie Y, Zhou Y, Luo Y, Huang X, Xu Z, Cai D and Fang Q: Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families. Exp Ther Med 9: 823-828, 2015.
APA
Huang, L., Xie, Y., Zhou, Y., Luo, Y., Huang, X., Xu, Z. ... Fang, Q. (2015). Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families. Experimental and Therapeutic Medicine, 9, 823-828. https://doi.org/10.3892/etm.2015.2200
MLA
Huang, L., Xie, Y., Zhou, Y., Luo, Y., Huang, X., Xu, Z., Cai, D., Fang, Q."Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families". Experimental and Therapeutic Medicine 9.3 (2015): 823-828.
Chicago
Huang, L., Xie, Y., Zhou, Y., Luo, Y., Huang, X., Xu, Z., Cai, D., Fang, Q."Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families". Experimental and Therapeutic Medicine 9, no. 3 (2015): 823-828. https://doi.org/10.3892/etm.2015.2200
Copy and paste a formatted citation
x
Spandidos Publications style
Huang L, Xie Y, Zhou Y, Luo Y, Huang X, Xu Z, Cai D and Fang Q: Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families. Exp Ther Med 9: 823-828, 2015.
APA
Huang, L., Xie, Y., Zhou, Y., Luo, Y., Huang, X., Xu, Z. ... Fang, Q. (2015). Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families. Experimental and Therapeutic Medicine, 9, 823-828. https://doi.org/10.3892/etm.2015.2200
MLA
Huang, L., Xie, Y., Zhou, Y., Luo, Y., Huang, X., Xu, Z., Cai, D., Fang, Q."Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families". Experimental and Therapeutic Medicine 9.3 (2015): 823-828.
Chicago
Huang, L., Xie, Y., Zhou, Y., Luo, Y., Huang, X., Xu, Z., Cai, D., Fang, Q."Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families". Experimental and Therapeutic Medicine 9, no. 3 (2015): 823-828. https://doi.org/10.3892/etm.2015.2200
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