PMC5960054_01
PMC5960054_02
GTG-banding revealed a 45,XX, rob (q10;q10). The derivative chromosome is marked by an arrowhead
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F1
Banding in conventional cytogenetics revealed a karyotype of 45,XX,rob(22;22)[20] (Figure 1).
Karyotype and chromosomal aberrations were confirmed using molecular cytogenetic approaches. (A) A robertsonian translocation rob (22;22) was identified using the whole chromosome painting probe (B). Application of the probe Di-George probe revealed two red and two green signals on the derivative chromosome 22. (C) Application of all human centromer probe confirmed rob (22; 22). (D) The application of aMCB confirmed rob (22;22)(q10;q10). Abbreviations: der = derivative chromosome
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F2
This finding was further studied by molecular cytogenetics and confirmed robertsonian translocation rob (22;22) (Figure 2).
Pedigree of the proband
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F3
Her brother and three sisters had normal phenotypes as well as karyotypes (46,XY and 46,XX respectively), pedigree is shown in figure 3.