PMC5463451_01
Multiple views (a-d) of our male patient at 36 years of age with distal partial trisomy 15q26 and partial monosomy 16p13.3.
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F1
Frontal and profile facial views of the patient are seen in figure 1a. Full frontal and profile views of the patient are seen in figure 1b, and a view of his hands in figure 1c. T7-T8 level and a 22  left-sided upper thoracic scoliosis. There was forward inclination of the thoracic and lumbar spine with reversal of thoracic kyphosis and moderate cervical kyphosis (fig. 1d).
Duplication (arrow) of chromosome 15q26.2q26.3 (94,710,928-102,531,392 bp) found with microarray analysis. Genes included within this duplication are MCTP2, LOC400456, LOC145820, NR2F2, MIR1469, SPATA8, LOC91948, ARRDC4, FAM169B, MIR4714, IGF1R, PGPEP1L, SYNM, TTC23, HSP90B2P, LRRC28, MEF2A, LYSMD4, DNM1P46, ADAMTS17, FLJ42289, CERS3, PRKXP1, LINS, ASB7, ALDH1A3, LRRK1, CHSY1, VIMP, SNRPA1, LOC100507472, PCSK6, TM2D3, TARSK2, OR4F6, OR4F15, OR4F13P, OR4F4, FAM138E, WASH3P, and DDX11L9.
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F2
The 15q26.2q26.3 duplication contained 41 genes, including IGF1R, SYNM, MEF2A, ADAMTS17, CERS3, ALDH1A3, and CHSY1 (fig. 2).
Deletion (arrow) of chromosome 16p13.3 (0-1,930,412 bp) found with microarray analysis. Genes included within this deletion are DDX11L10, POLR3K, SNRNP25, RHBDF1, MPG, NPRL3, HBZ, HBM, HBA2, HBA1, BHQ1, LUC7L, ITFG3, RGS11, ARHGDIG, MIR5587, SOLH, MIR3176, C16orf11, NHLRC4, PIGQ, RAB40C, WFIKKN1, C16orf13, FAM195A, WDR90, RHOT2, RHBCL1, STUB1, JMJD8, WDR24, FBXL16, METRN, FAM173A, CCDC78, HAGHL, NARFL, MSLN, MIR662, RPUSD1, CHTF18, GNG13, PRR25, LMF1, SOX8, SSTR5-AS1, SSTR5, C1QTNF8, CACNA1H, TPSG1, TPSB2, TPSAB1, TPSD1, UBE21, BAIAP3, TSR3, GNPTG, UNKL, C16orf91, CCDC154, CLCN7, PTX4, TELO2, TMEM204, IFT140, CRAMP1L, HN1L, MIR3177, MAPK8IP3, NME3, MRPS34, EME2, SPSB3, NUBP2, IGFALS, HAGH, FAHD1, MEIOB, and LINC00254.
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F3
The 16p13.3 deletion contained 88 genes, including HBA2, HBA1, AXIN1, CCDC78, LMF1, SOX8, SSTR5, CACNA1H, BAIAP3, CLCN7, IFT140, and IGFALS (fig. 3).
FISH metaphase images from our patient. a FISH image showing the deleted region of 16p13.3 with loss of the 16p13.3 probe on the derivative chromosome 16. b FISH image showing 3 copies of a probe for the 15q26.2q26.3 region and partial trisomy 15q26.
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F4
A normal chromosome 16 and a homologous pair of chromosome 15 were observed (fig. 4).