case_images: PMC11330203_01
case_images: Male karyotype analysis showing the distribution of cell lines observed in a total of 50 cells. Cell line A exhibits 45,X in 44 cells, cell line B shows 46,XY in 5 cells, and cell line C displays 46,X,idic(Yp) in 1 cell
case_images: JRI-25-72-g001.jpg
case_images: PMC11330203_01_JRI-25-72-g001.jpg
case_images: F1
case_images: All three karyotypes are shown in figure 1 which confirms a mosaic karyotype, with 88% of cells exhibiting monosomy for the X chromosome, 2% of cells showing an idic(Yp) chromosome, and 10% of cells being normal.
case_images: A) Metaphase showing one green signal for X chromosome and one red signal for Y chromosome, B) Metaphase showing one green signal for chromosome X
case_images: JRI-25-72-g002.jpg
case_images: PMC11330203_01_JRI-25-72-g002.jpg
case_images: F2
case_images: The FAST FISH prenatal enumeration probe kit (Cytocell, UK) was utilized, targeting the Xp11.1-q11.1 region (DXZ1 green) and Yp11.1-q11.1 region (DYZ3 orange) on interphase nuclei and metaphases obtained from peripheral blood sample (Figure 2).
case_images: LSI SRY(red)/CEPX(green); A) 45,X cell line with only one green signal for X chromosome; B) 46,X,idic(Yp) cell line with one green signal for X chromosome and two red signals for SRY on the abnormal Y chromosome; C) inverted DAPI image showing two signals for SRY on idic(Yp)
case_images: JRI-25-72-g003.jpg
case_images: PMC11330203_01_JRI-25-72-g003.jpg
case_images: F3
case_images: The first probe, LSI SRY (red)/CEPX (green) (Cytocell, UK) was localized to Yp11.3 and p11.1-q11.1 regions of the X chromosome (Figure 3).
case_images: SE X (DXZ1-red)/SE Y (DYZ1-green); A) 45,X cell line with only one red signal for X chromosome; B) 46,X,idic(Yp) cell line with one red signal for X chromosome and no green signals for Yq12 heterochromatin region on the abnormal Y chromosome; C) inverted DAPI image showing suspected idic (Yp) without any signals for Yq12 heterochromatin
case_images: JRI-25-72-g004.jpg
case_images: PMC11330203_01_JRI-25-72-g004.jpg
case_images: F4
case_images: The second probe, SE X (DXZ1-red)/SE Y (DYZ1-green) (KreatechTM, Netherlands), was localized to the p11.1-q11.1 region of the X chromosome and q12 region of the Y chromosome (Figure 4).