case_images: PMC5657133_01
case_images: Partial karyotype showing ring chromosome 15, i.e. r(15)(p11.2q26)
case_images: 13039_2017_339_Fig1_HTML.jpg
case_images: PMC5657133_01_13039_2017_339_Fig1_HTML.jpg
case_images: Fig1
case_images: 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).
case_images: 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
case_images: 13039_2017_339_Fig2_HTML.jpg
case_images: PMC5657133_01_13039_2017_339_Fig2_HTML.jpg
case_images: Fig2
case_images: 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).
case_images: 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-)
case_images: 13039_2017_339_Fig3_HTML.jpg
case_images: PMC5657133_01_13039_2017_339_Fig3_HTML.jpg
case_images: Fig3
case_images: 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).