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(A) Upper panels show dysmorphic facial features of patient 5 and and PM with fine BL in upper limbs (left). G-banded chromosomes showing <t>sSMC</t> (right). The lower panels show (left) the sSMC FISH assay with XL IRF4 (6p25) break-apart positive double signals, and <t>the</t> <t>SNP-Array</t> 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.
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(A) Upper panels show dysmorphic facial features of patient 5 and and PM with fine BL in upper limbs (left). G-banded chromosomes <t>showing</t> <t>sSMC</t> (right). The lower panels show (left) the sSMC FISH assay with XL IRF4 (6p25) break-apart positive double signals, and the <t>SNP-Array</t> 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.
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(A) Upper panels show dysmorphic facial features of patient 5 and and PM with fine BL in upper limbs (left). G-banded chromosomes <t>showing</t> <t>sSMC</t> (right). The lower panels show (left) the sSMC FISH assay with XL IRF4 (6p25) break-apart positive double signals, and the <t>SNP-Array</t> 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.
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(A) Upper panels show dysmorphic facial features of patient 5 and and PM with fine BL in upper limbs (left). G-banded chromosomes <t>showing</t> <t>sSMC</t> (right). The lower panels show (left) the sSMC FISH assay with XL IRF4 (6p25) break-apart positive double signals, and the <t>SNP-Array</t> 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.
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(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.

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, SNP array analysis (Illumina CRC BeadChip) was performed on DS with the following results: arr[GRCh37] Xp22.33q28(60,814–155,254,881)x1 [∼30%], Xp21.1p11.1(36,025,401–58,483,247)x3 [∼55%], Xp22.33q28(60,814–155,254,881)x2 [∼15%] (Human Genome Build 37, hg19) ( ).

Techniques:

(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.

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, SNP array analysis (Illumina CRC BeadChip) was performed on DS with the following results: arr[GRCh37] Xp22.33q28(60,814–155,254,881)x1 [∼30%], Xp21.1p11.1(36,025,401–58,483,247)x3 [∼55%], Xp22.33q28(60,814–155,254,881)x2 [∼15%] (Human Genome Build 37, hg19) ( ).

Techniques: