PMC3026978_01
Karyotype of the father.
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fig1
Standard cytogenetic analysis on GTG-banded (at the 550 banding stage) chromosomes of the lymphocytes revealed 46,XX karyotype in the woman, and a balanced translocation 46,XY,t(6;17)(p25;p11.2) in the husband (Figure 1).
Idogram of the father.
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fig2
Fluorescens in situ hybridisation (FISH) analysis by using probes specific for the subtelomeric regions of the short arm of chromosome 6 and chromosome 17 (17p13.3 and 6p) performed by Marta Czako et al. in the Institut of Medical Genetics of University of Pecs (Hungary) modified the result of the G-banding cytogenetic analysis, which confirmed a balanced translocation with the result 46,XY,t(6;17)(p23;p11.2) (Figure 2).
(a) Overview of the 17p13 region in the Cytogenetic array investigation. The two highlited regions show an incease from two to three copies in the genome. (b) Detailed view of the two regions with an increase in copy number. Dots represent the weighted log2 signal values for individual probes covering the inquired region.
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fig3
Details of these two regions can be seen on Figure 3.
Cystic dilation of the aqueductus Sylvii.
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fig4
On the anterior side of the cerebellum, behind the thalamus, there was a 4.6 x 5.0 mm cystic shadow (Figure 4). The cerebellum seemed slightly abnormal, but the transversal section demonstrated cystic dilation of the aqueductus Sylvii (Figure 4).