Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype

  • Authors:
    • Walid Al-Achkar
    • Abdulsamad Wafa
    • Thomas Liehr
    • Elisabeth Klein
    • Faten Moassass
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  • Published online on: May 29, 2012     https://doi.org/10.3892/mmr.2012.930
  • Pages: 293-296
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Abstract

Abnormalities involving sex chromosomes account for approximately 0.5% of live births. The phenotypes of individuals with mosaic cell lines that exhibit structural aberrations of the X and Y chromosomes are variable and difficult to predict. Phenotypes associated with sex chromosome mosaicism vary from females with Turner syndrome to males with infertility, and include individuals with ambiguous genitalia. In this study, we report a 17-year-old male with phenotypic features of Klinefelter syndrome with an isodicentric Y chromo­some and a final karyotype of 45,X[4]/46,X,idic(Y)(q11.21)[95]/47,XX,+idic(Y)(q11.21)[1]. Application of high resolution molecular cytogenetic techniques as well as molecu­lar studies revealed two copies of the sex-determining region of Y chromosome (SRY) gene and two centromers. Additionally, the breakpoint in Yq11.21 was narrowed down between positions 13.4 and 14.3 MB (hg18). We present a patient with partial disomy of Ypter to Yq11.21 in the majority of the patient cells, showing phenotypic features of Klinefelter syndrome. The syndrome may have occurred due to a more prominent presence of the cell line 47,XX,+idic(Y)(q11.21) detected only once in 1% of the peripheral blood cells. This finding may prove helpful in similar cases with symptoms of Klinefelter syndrome, but which exhibit an absence of the cell line 47,XXY in peripheral blood.
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August 2012
Volume 6 Issue 2

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Al-Achkar W, Wafa A, Liehr T, Klein E and Moassass F: Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype . Mol Med Rep 6: 293-296, 2012.
APA
Al-Achkar, W., Wafa, A., Liehr, T., Klein, E., & Moassass, F. (2012). Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype . Molecular Medicine Reports, 6, 293-296. https://doi.org/10.3892/mmr.2012.930
MLA
Al-Achkar, W., Wafa, A., Liehr, T., Klein, E., Moassass, F."Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype ". Molecular Medicine Reports 6.2 (2012): 293-296.
Chicago
Al-Achkar, W., Wafa, A., Liehr, T., Klein, E., Moassass, F."Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype ". Molecular Medicine Reports 6, no. 2 (2012): 293-296. https://doi.org/10.3892/mmr.2012.930