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Pedigree and genetic analysis for family 1. (A) Genetic pedigree of family 1; black circle II.1 indicates the affected child (P1). (B) SeqPilot ® CNV analysis: reduced copy number for the RUNX1 exons for the index patient (green columns) compared to the patients analyzed in the same enrichment (blue), indicating a heterozygous RUNX1 -gene deletion. (C) Chromosomal <t>microarray</t> analysis: 1.56 Mb deletion (21q22.11q22.12 shown as a red bar) including RUNX1 .
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Pedigree and genetic analysis for family 1. (A) Genetic pedigree of family 1; black circle II.1 indicates the affected child (P1). (B) SeqPilot ® CNV analysis: reduced copy number for the RUNX1 exons for the index patient (green columns) compared to the patients analyzed in the same enrichment (blue), indicating a heterozygous RUNX1 -gene deletion. (C) Chromosomal <t>microarray</t> analysis: 1.56 Mb deletion (21q22.11q22.12 shown as a red bar) including RUNX1 .
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Pedigree and genetic analysis for family 1. (A) Genetic pedigree of family 1; black circle II.1 indicates the affected child (P1). (B) SeqPilot ® CNV analysis: reduced copy number for the RUNX1 exons for the index patient (green columns) compared to the patients analyzed in the same enrichment (blue), indicating a heterozygous RUNX1 -gene deletion. (C) Chromosomal <t>microarray</t> analysis: 1.56 Mb deletion (21q22.11q22.12 shown as a red bar) including RUNX1 .
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Pedigree and genetic analysis for family 1. (A) Genetic pedigree of family 1; black circle II.1 indicates the affected child (P1). (B) SeqPilot ® CNV analysis: reduced copy number for the RUNX1 exons for the index patient (green columns) compared to the patients analyzed in the same enrichment (blue), indicating a heterozygous RUNX1 -gene deletion. (C) Chromosomal microarray analysis: 1.56 Mb deletion (21q22.11q22.12 shown as a red bar) including RUNX1 .

Journal: Frontiers in Medicine

Article Title: RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series

doi: 10.3389/fmed.2025.1657054

Figure Lengend Snippet: Pedigree and genetic analysis for family 1. (A) Genetic pedigree of family 1; black circle II.1 indicates the affected child (P1). (B) SeqPilot ® CNV analysis: reduced copy number for the RUNX1 exons for the index patient (green columns) compared to the patients analyzed in the same enrichment (blue), indicating a heterozygous RUNX1 -gene deletion. (C) Chromosomal microarray analysis: 1.56 Mb deletion (21q22.11q22.12 shown as a red bar) including RUNX1 .

Article Snippet: Scanning and image acquisition were performed using an Illumina iScan microarray scanner.

Techniques: Microarray