PMC5657133_01
Partial karyotype showing ring chromosome 15, i.e. r(15)(p11.2q26)
13039_2017_339_Fig1_HTML.jpg
PMC5657133_01_13039_2017_339_Fig1_HTML.jpg
Fig1
Chromosome analysis performed on proband's 72-h lymphocyte cultures revealed an apparently stable non-mosaic ring chromosome 15, instead of one normal chromosome 15 [46,XY,r(15)(p11.2q26)] (Fig. 1).
Array-CGH profile of the patient showing a 2.8 Mb loss at 15q26.3 and 496 kb gain at 15q26.3 i.e. arr[GRCh37] 15q26.3(99550797_102429040)x1,15q26.3(99049746_99546177)x3
13039_2017_339_Fig2_HTML.jpg
PMC5657133_01_13039_2017_339_Fig2_HTML.jpg
Fig2
It revealed according to ISCN 2016 as arr[GRCh37] 15q26.3(99550797_102429040)x1,15q26.3(99049746_99546177)x3, indicating for a 496 kb gain encompassing IGF1R gene, and for a loss of 2.8 Mb, both in 15q26.3, and the latter encompassing genes like MEF2A, CHSY1, ADAMTS17, ADLH1A3 (Fig. 2).
Partial karyotype showing comprehensive characterization of the chromosome ring15 in the proband's karyotype and was identified as 46,XY,r(15)(p11.2q26),ish r(15)(p11.2q26)(RP11-654A16++)(subtel15qter-)
13039_2017_339_Fig3_HTML.jpg
PMC5657133_01_13039_2017_339_Fig3_HTML.jpg
Fig3
For FISH various probes were applied, like a microdissection derived probe for all acrocentric p-arms (midi54), the locus-specific probe RP11-654A16 in 15q26.3 (GRCh37: 99338019_99529036), and two commercially available probes (Abbott/Vysis, Wiesbaden, Germany) for subtelomeric region in 15qter and a centromere-specific probe for 15p11.1-q11.1 (Fig. 3).