PMC6487124_01
PMC6487124_02
ArrayCGH analysis of the patient peripheral blood DNA hybridised against a normal male control shows a total deletion of the Y chromosome (58.80 Mb), but not of the X chromosome (data not shown).
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fig1
ArrayCGH (Comparative genomic hybridization, PerkinElmer  CGX-HD 180K, Genoglyphix v3.1) identified a mosaicism involving chromosome Y (Figure 1).
(a) FISH analysis depicting two interphase cells. Top: a cell showing only one green signal for the centromeric X region (DXZ1) indicating a 45,X cell; bottom: the cell shows one green signal (DXZ1) and two distinct but proximal red signals for the Y centromeric region (DYZ3) present on the idic (Y) chromosome. (b) FISH analysis using probes for the centromeric X region (DXZ1, green) and for the sex-determining region of Y chromosome on Yp11.3 (SRY, red) on a metaphase spread showing one signal on the chromosome X and one condensed signal on the idic (Y) (arrow) and (c) on interphase cells showing two hybridizations signals for the SRY region in mosaic.
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fig2
This rearrangement was further characterized by karyotype and FISH (fluorescence in situ hybridization) with probes for the SRY and for the X (DXZ1) and Y (DYZ3) centromeric regions (Cytocell ) in the blood and buccal mucosa (Figures 2 and 3).
Patient's partial karyotype (GTL banding) showing the normal chromosome X (a) and the idic(Y)(p11.3) (b).
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fig3
This rearrangement was further characterized by karyotype and FISH (fluorescence in situ hybridization) with probes for the SRY and for the X (DXZ1) and Y (DYZ3) centromeric regions (Cytocell ) in the blood and buccal mucosa (Figures 2 and 3).