PMC3136071_01
(a) Proband metaphase showing rob(13;14),i(Xq),inv(9) (b) Karyotype showing i(X),(qter---q10::---qter),rob(13;14) (q10;q10),inv(9)(p13q33). (c) Father of proband metaphase showing rob(13;14), inv(9). (d) Karyotype showing rob(13;14)(q10;q10),inv(9) (p13q33)
JHRS-4-53-g001.jpg
PMC3136071_01_JHRS-4-53-g001.jpg
F1
Chromosomal analysis of the proband revealed 45,X, rob(13;14)(q10;q10),inv(9)(p13q33),i(Xq) (qter---q10::---qter) [Figure 1a and b]. Father's karyotype was 45,XY,rob(13;14)(q10;q10),inv(9)(p13q33)  [Figure 1c and d].
(a) Proband FISH showing der(13), i(Xq) with centromeric probes. (b) FISH with centromeric probe of X chromosome showing i(Xq). (c) FISH with partial chromosome paint (Xq) showing i(Xq). (d) FISH with partial chromosome paint (9q) showing inv(9)
JHRS-4-53-g002.jpg
PMC3136071_01_JHRS-4-53-g002.jpg
F2
Fluorescence in situ hybridization (FISH) was performed using centromeric probe (14/22, X) and partial chromosome paint (PCP) (Xq, 9q) [Figure 2a-d].