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Data of the patients, regarding sex, chromosomes with additional material, CMA result, genomic imbalances, and karyotype after microarray with parental origin.

Journal: Scientific Reports

Article Title: Cytogenomic characterization of karyotypes with additional autosomal material

doi: 10.1038/s41598-025-97077-1

Figure Lengend Snippet: Data of the patients, regarding sex, chromosomes with additional material, CMA result, genomic imbalances, and karyotype after microarray with parental origin.

Article Snippet: Chromosome microarray analyses (CMA) were performed using four different microarray platforms, each following the manufacturer’s protocols: Genome-Wide Human SNP Array 6.0 (P14, P15, P19, P22, P23, P26, and P29), CytoScan 750 K (P8, P11, P17, P20, and P25), CytoScan HD (P2, P4, P5, P6, P9, P10, P12, P16, P18, P24, P27, P28, P30, and P31), all by Affymetrix (Affymetrix, California, USA) and SurePrint G3 Human CGH Microarray 4 × 180 K (Agilent, California, USA) (P1, P3, P7, P13, and P21).

Techniques: Microarray

Patient P30’s results. ( a ) Partial karyotype showing additional material (arrow) in the short arm of chromosome 21. ( b ) CMA showing a ~ 70.7 Mb chromosome 9 duplication (arr[GRCh37] 9p24.3q21.11(203,862_70,990,047)×3). ( c ) FISH with chromosome 9 centromeric probe (in red) and chromosomes 13 and 21 probes (in green) revealing the presence of two centromere signals in the rearranged chromosome (arrow). ( d ) Ideogram of chromosome 9 and 21 pairs from the 46,XX,+9,dic(9;21)(q21.11;p11.2)dn karyotype.

Journal: Scientific Reports

Article Title: Cytogenomic characterization of karyotypes with additional autosomal material

doi: 10.1038/s41598-025-97077-1

Figure Lengend Snippet: Patient P30’s results. ( a ) Partial karyotype showing additional material (arrow) in the short arm of chromosome 21. ( b ) CMA showing a ~ 70.7 Mb chromosome 9 duplication (arr[GRCh37] 9p24.3q21.11(203,862_70,990,047)×3). ( c ) FISH with chromosome 9 centromeric probe (in red) and chromosomes 13 and 21 probes (in green) revealing the presence of two centromere signals in the rearranged chromosome (arrow). ( d ) Ideogram of chromosome 9 and 21 pairs from the 46,XX,+9,dic(9;21)(q21.11;p11.2)dn karyotype.

Article Snippet: Chromosome microarray analyses (CMA) were performed using four different microarray platforms, each following the manufacturer’s protocols: Genome-Wide Human SNP Array 6.0 (P14, P15, P19, P22, P23, P26, and P29), CytoScan 750 K (P8, P11, P17, P20, and P25), CytoScan HD (P2, P4, P5, P6, P9, P10, P12, P16, P18, P24, P27, P28, P30, and P31), all by Affymetrix (Affymetrix, California, USA) and SurePrint G3 Human CGH Microarray 4 × 180 K (Agilent, California, USA) (P1, P3, P7, P13, and P21).

Techniques: