Journal: Journal of Applied Genetics

Article Title: A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literature review of the partial 16p13.3 trisomy syndrome

doi: 10.1007/s13353-022-00743-7

Figure Lengend Snippet: Results of postnatal karyotype and FISH. a Standard chromosome analysis of the index patient revealed abnormal karyotype: 46,XX,dup(16)(pter- > p13.3::p13.3- > qter); the black arrow points to the additional material on the short arm of chromosome 16. b FISH performed using Kreatech Sub-Telomere Probes for 16pter and 16qter demonstrated the normal two signals of subtelomere 16q (spectrum green), one normal signal of subtelomere 16p (spectrum red), and an abnormal signal of the other subtelomere 16p, indicating an additional genomic material originating from the short arm subtelomeric region of chromosome 16 (the white arrow points to the aberrant chromosome)

Article Snippet: Dual-color FISH was performed using the Kreatech™ Sub-Telomere FISH Probes KBI-40228-R 16pter red and KBI-40229-G 16qter green (Kreatech Diagnostics, Amsterdam, the Netherlands) according to the manufacturer’s shortened instructions; i.e., heat denaturation of the DNA on a slide and adding the probes were performed on a heating block.

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