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Journal: Frontiers in Genetics
Article Title: Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism
doi: 10.3389/fgene.2024.1356786
Figure Lengend Snippet: (A) Upper panels show dysmorphic facial features of patient 5 and and PM with fine BL in upper limbs (left). G-banded chromosomes showing sSMC (right). The lower panels show (left) the sSMC FISH assay with XL IRF4 (6p25) break-apart positive double signals, and the SNP-Array 46 Optima showing mosaicism of 6p tetraploidy on the right. (B) G-banded chromosomes of patient 6 with sSMC (left) and metaphase of FISH assay (right) showing a CEP 9 positive signal. SNP-Array 46 Optima revealing mosaic trisomy 9p (lower panel). (C) Dysmorphic facial features of patient 7 and PM with fine BL in the lower limbs (left). G-banded chromosomes showing sSMC at the bottom (right). FISH images are included, chromosomes of M-FISH assay revealing the nine chromosome origins of the sSMC, and chromosomes in inverted gray are shown in the lower panels (left). sSMC with a WCP nine positive signal, and two subtelomeric 9p positive signals, revealing a tetrasomy of 9p.
Article Snippet: To further characterize the
Techniques:
Journal: Frontiers in Genetics
Article Title: Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism
doi: 10.3389/fgene.2024.1356786
Figure Lengend Snippet: (A) Upper panels show dysmorphic facial features of patient 5 and and PM with fine BL in upper limbs (left). G-banded chromosomes showing sSMC (right). The lower panels show (left) the sSMC FISH assay with XL IRF4 (6p25) break-apart positive double signals, and the SNP-Array 46 Optima showing mosaicism of 6p tetraploidy on the right. (B) G-banded chromosomes of patient 6 with sSMC (left) and metaphase of FISH assay (right) showing a CEP 9 positive signal. SNP-Array 46 Optima revealing mosaic trisomy 9p (lower panel). (C) Dysmorphic facial features of patient 7 and PM with fine BL in the lower limbs (left). G-banded chromosomes showing sSMC at the bottom (right). FISH images are included, chromosomes of M-FISH assay revealing the nine chromosome origins of the sSMC, and chromosomes in inverted gray are shown in the lower panels (left). sSMC with a WCP nine positive signal, and two subtelomeric 9p positive signals, revealing a tetrasomy of 9p.
Article Snippet: To further characterize the sSMC,
Techniques: