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

  • Published online on: January 21, 2015     https://doi.org/10.3892/etm.2015.2200
  • Pages: 823-828
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


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.
View Figures
View References

Related Articles

Journal Cover

March-2015
Volume 9 Issue 3

Print ISSN: 1792-0981
Online ISSN:1792-1015

Sign up for eToc alerts

Recommend to Library

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