PMC6127936_01
Genetic characterization of the first case. a FISH analysis with chromosome 4 specific subtelomeric probes: 4pter (green signals) and 4qter (red signals). b Proband's QFQ-banded chromosomes 4 and 13 (700-band levels). c Normal (left) and derivative (right) chromosomes 13 in the proband, his father and grandmother. d Array-CGH view of chromosome 4 and enlargement of the duplicated region
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Fig1
The ISCN description was: ish der(13)t(4;13)(q35;p11.2)(q35+)(DJ963k6+) (Fig. 1a, b). The father and the paternal grandmother were carriers of the same unbalanced translocation (Fig. 1c), as determined by FISH analyses (data not shown). In order to understand if 4q trisomy could be considered a polymorphism, an array-CGH analysis was performed in the father (Fig. 1d).
First CNV description. a 4q subtelomeric FISH probe sequence and CNV position. b UCSC region of the trisomic segment
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Fig2
The trisomic region, of about 78 kb, is included within the FRG1-divergent transcript, a long non coding RNA (Fig. 2a, b).
Genetic characterization of the second case. a FISH analysis with chromosome 7 specific subtelomeric probes: 7pter (green signals) and 7qter (red signals). b Father's QFQ-banded chromosomes 7 and 13 (550-band levels). c Chromosomes 13 transmission in the child, his father and his grandmother. D) Array-CGH view of chromosome 7 and enlargement of the duplicated region
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Fig3
The ISCN description was: ish der(13)t(7;13)(q36;p11.2)(q36+)(2000a5+) (Fig. 3a, b). FISH analyses allowed us to define the maternal inheritance of the rearrangement (data not shown), that was not transmitted to the affected child (Fig. 3c). In order to better characterize a trisomic segment, array-CGH analysis was performed in the proband, confirming a duplication of about 525 Kb at 7q36.3 (from nt 158,599,150 to nt 159,124,131) (Fig. 3d).
Second CNV description. a 7q subtelomeric FISH probe sequence and CNV position. b UCSC and OMIM genes in the trisomic region
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Fig4
This region is covered by 54 oligo and 7 SNPs probes with a copy number of 3 and includes the 7q telomeric specific FISH probe (from nt 158,859,151 to nt 158,958,164) (Fig. 4a). The exon 1 of ESYT2 (OMIM616691) and the whole WDR60 (OMIM615462) and VIPR2 (OMIM601970) genes map within the region (Fig. 4b).