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Prenatal diagnosis of sex chromosomal inversion, translocation and deletion

  • Authors:
    • Lin Zhang
    • Meihong Ren
    • Guining Song
    • Yang Zhang
    • Xuexia Liu
    • Xiaohong Zhang
    • Jianliu Wang
  • View Affiliations / Copyright

    Affiliations: Prenatal Diagnosis Center, People's Hospital of Peking University, Beijing 100044, P.R. China
    Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 2811-2816
    |
    Published online on: December 6, 2017
       https://doi.org/10.3892/mmr.2017.8198
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Abstract

The aim of the present study was to perform comprehensive prenatal diagnosis using various detection techniques on a fetus in a high‑risk pregnant woman, and to provide genetic counseling for the patient and her family so as to avoid birth defects. The routine karyotype analysis via amniocentesis, fluorescence in situ hybridization, and whole genome microarray technique were performed for the prenatal diagnosis of the fetus. The fetal karyotype was 46,X,ish der(X) inv(X)(p22.3q28)t(X;Y)(q28;q11.2)(XYqter+,SRY‑,DXZ1+, RP11‑64L19+,STS+,XYpter+); namely, one fetal X chromosome belonged to the derivative imbalanced chromosome and this chromosome demonstrated complex chromosomal rearrangements involving inversion, translocation and deletion. Notably, pericentric inversion between Xp22.3 and Xq28 was identified, and the chromosomal microarray technique confirmed that the long arm q28 of the derivative X chromosome had a 1.241‑Mb deletion in Xq28, which included Online Mendelian Inheritance in Man genes such as coagulation factor VIII, glucose‑6‑phosphate dehydrogenase, inhibitor of nuclear factor‑κB kinase subunit γ, trimethyllysine hydroxylase ε, Ras‑related protein Rab‑39B and chloride intracellular channel 2. In addition, this chromosome also exhibited the local translocation of fragment Yq11.21‑q11.23, which did not include the sex determining region Y gene. This fetus demonstrated deletion, inversion and translocation syndrome, and may exhibit the corresponding clinical phenotypes (e.g., intellectual disability or general delayed development) (1) of such chromosome abnormalities after birth. Therefore, in prenatal diagnosis, a variety of genetic diagnostic techniques should be comprehensively used based on specific clinical situations, which may accurately reveal the nature, sources and manifestations of the derivative chromosome abnormalities and avoid the birth of children with defects.
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Copy and paste a formatted citation
Spandidos Publications style
Zhang L, Ren M, Song G, Zhang Y, Liu X, Zhang X and Wang J: Prenatal diagnosis of sex chromosomal inversion, translocation and deletion. Mol Med Rep 17: 2811-2816, 2018.
APA
Zhang, L., Ren, M., Song, G., Zhang, Y., Liu, X., Zhang, X., & Wang, J. (2018). Prenatal diagnosis of sex chromosomal inversion, translocation and deletion. Molecular Medicine Reports, 17, 2811-2816. https://doi.org/10.3892/mmr.2017.8198
MLA
Zhang, L., Ren, M., Song, G., Zhang, Y., Liu, X., Zhang, X., Wang, J."Prenatal diagnosis of sex chromosomal inversion, translocation and deletion". Molecular Medicine Reports 17.2 (2018): 2811-2816.
Chicago
Zhang, L., Ren, M., Song, G., Zhang, Y., Liu, X., Zhang, X., Wang, J."Prenatal diagnosis of sex chromosomal inversion, translocation and deletion". Molecular Medicine Reports 17, no. 2 (2018): 2811-2816. https://doi.org/10.3892/mmr.2017.8198
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang L, Ren M, Song G, Zhang Y, Liu X, Zhang X and Wang J: Prenatal diagnosis of sex chromosomal inversion, translocation and deletion. Mol Med Rep 17: 2811-2816, 2018.
APA
Zhang, L., Ren, M., Song, G., Zhang, Y., Liu, X., Zhang, X., & Wang, J. (2018). Prenatal diagnosis of sex chromosomal inversion, translocation and deletion. Molecular Medicine Reports, 17, 2811-2816. https://doi.org/10.3892/mmr.2017.8198
MLA
Zhang, L., Ren, M., Song, G., Zhang, Y., Liu, X., Zhang, X., Wang, J."Prenatal diagnosis of sex chromosomal inversion, translocation and deletion". Molecular Medicine Reports 17.2 (2018): 2811-2816.
Chicago
Zhang, L., Ren, M., Song, G., Zhang, Y., Liu, X., Zhang, X., Wang, J."Prenatal diagnosis of sex chromosomal inversion, translocation and deletion". Molecular Medicine Reports 17, no. 2 (2018): 2811-2816. https://doi.org/10.3892/mmr.2017.8198
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