PMC5941566_01
PMC5941566_02
Karyotype results of 46,XY,r(9) (shown left) and 46,XY,idic r(9)x 2 (right)
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Fig1
Re-karyotyping revealed new findings (Figs. 1 and 2).
Karyotype results containing isodicentric ring chromosome 9 (left) and the other with monosomy 9 (right)
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Fig2
Re-karyotyping revealed new findings (Figs. 1 and 2).
Panel a Normal 46 XY with both control (green) and DMRT1(red) probe signals detected. Panel b Ring chromosome 9 without DMRT 1 signal
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Fig3
Except the two normal chromosome 9 (Fig. 3a), all other cells showed only one DMRT1 signal (Figs. 3b, 4 and 5).
Array-CGH log2 ratio profile of our case showing and an ideogram of chromosome 9 showing the deleted region (red) and duplicated region (green), the mutated genes are also noted
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Fig6
The hybridized array was immediately scanned with an Agilent Microarray Scanner (Agilent Technologies, Inc.). CGH array revealed a deletion around 1.25 Mb at 9p24.3 loci [arr 9p24.3(204,193-1,457,665)x 1] and three duplications around 13 Mb at the subtelomeric region near the breakage point that formed the ring chromosome 9 [9p24.3p22.3(1,477,660-14,506,754)x 3]. The deletion encompassed DMRT1-3 genes, in addition to KANK1 and DOCK8 genes, while the 13 Mb duplication encompassed SMARCA2, VLDR, PUM3, RFX3, SPATA6L, AK3, RCL1, JAK2, IL33, DMAC1, KDM4C genes (Fig. 6).