PMC3569886_01
PMC3569886_02
Pedigree of the patient: I, 1: deceased woman, 70 y.o., cardiac pathology I, 2: deceased man, 70 y.o., Parkinson's disease I, 3: deceased woman, 70 y.o., Type II diabetes II, 4: multinodular goitre.
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fig1
In addition the patient reported myopia and arthralgia since she was 15 years old Family history showed familiarity for thyroid, neurological cardiovascular diseases (see pedigree: Figure 1).
GTG Karyotype: X rearranged population [46,X,rea(X)].
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fig2
High-definition GTG banding analysis of 100 metaphases (Leica CW4000 software) demonstrated a 45,X (41%)/46,X,rea(X) (59%) mosaicism (Figure 2).
CBG Karyotype: red arrows show the two centromeres on dicentric X chromosome; blue arrows point to normal chromosomes (one centromere).
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fig3
CBG staining of a new lymphocyte preparation demonstrated the presence of two centromeres in the X rearranged population [46,X,rea(X)] (Figure 3).
FISH images: (a) Aqua probe for X centromeres that demonstrates an X isodicentric subpopulation. (b) Two Orange/Green signals for Xp extremity on the isodicentric X (with two Aqua signals). (c) No Orange/Green signals for Xq in the isodicentric X (Aqua).
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fig4
After FISH analysis the subpopulation previously indicated as 46,X,rea(X) was then redefined as 46,X,idic(X)(q24) (Figure 4).