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Heatmap of <t>array-based</t> <t>methylation</t> analysis using analysis method 1 . The heatmap indicates 56 aberrant <t>DMRs</t> out of 78 examined DMRs. Each row represents a DMR; each column represents a patient. Germline DMRs are shown on a gray background, secondary DMRs on a light green background, and unclassifiable DMRs on a white background. Methylation disturbances of DMRs are classified into seven categories based on the degree. B, Beckwith-Wiedemann syndrome; P, pseudohypoparathyroidism type 1B; O, overgrowth; S, Silver-Russell syndrome; TS, Temple syndrome; TN, transient neonatal diabetes mellitus; W, Prader-Willi syndrome; SG, small for gestational age; N, neurodevelopmental delay and/or intellectual developmental disorder; A, assisted reproductive technology; T, monozygotic monochorionic diamniotic twins; V, variants of uncertain significance; L, likely pathogenic; DMR, differential methylated region; Chr, chromosome; MML, median methylation level of CpG sites in the DMR; SD, standard deviation; mean, mean MML of 16 healthy controls
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Heatmap of <t>array-based</t> <t>methylation</t> analysis using analysis method 1 . The heatmap indicates 56 aberrant <t>DMRs</t> out of 78 examined DMRs. Each row represents a DMR; each column represents a patient. Germline DMRs are shown on a gray background, secondary DMRs on a light green background, and unclassifiable DMRs on a white background. Methylation disturbances of DMRs are classified into seven categories based on the degree. B, Beckwith-Wiedemann syndrome; P, pseudohypoparathyroidism type 1B; O, overgrowth; S, Silver-Russell syndrome; TS, Temple syndrome; TN, transient neonatal diabetes mellitus; W, Prader-Willi syndrome; SG, small for gestational age; N, neurodevelopmental delay and/or intellectual developmental disorder; A, assisted reproductive technology; T, monozygotic monochorionic diamniotic twins; V, variants of uncertain significance; L, likely pathogenic; DMR, differential methylated region; Chr, chromosome; MML, median methylation level of CpG sites in the DMR; SD, standard deviation; mean, mean MML of 16 healthy controls
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Heatmap of <t>array-based</t> <t>methylation</t> analysis using analysis method 1 . The heatmap indicates 56 aberrant <t>DMRs</t> out of 78 examined DMRs. Each row represents a DMR; each column represents a patient. Germline DMRs are shown on a gray background, secondary DMRs on a light green background, and unclassifiable DMRs on a white background. Methylation disturbances of DMRs are classified into seven categories based on the degree. B, Beckwith-Wiedemann syndrome; P, pseudohypoparathyroidism type 1B; O, overgrowth; S, Silver-Russell syndrome; TS, Temple syndrome; TN, transient neonatal diabetes mellitus; W, Prader-Willi syndrome; SG, small for gestational age; N, neurodevelopmental delay and/or intellectual developmental disorder; A, assisted reproductive technology; T, monozygotic monochorionic diamniotic twins; V, variants of uncertain significance; L, likely pathogenic; DMR, differential methylated region; Chr, chromosome; MML, median methylation level of CpG sites in the DMR; SD, standard deviation; mean, mean MML of 16 healthy controls
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Heatmap of <t>array-based</t> <t>methylation</t> analysis using analysis method 1 . The heatmap indicates 56 aberrant <t>DMRs</t> out of 78 examined DMRs. Each row represents a DMR; each column represents a patient. Germline DMRs are shown on a gray background, secondary DMRs on a light green background, and unclassifiable DMRs on a white background. Methylation disturbances of DMRs are classified into seven categories based on the degree. B, Beckwith-Wiedemann syndrome; P, pseudohypoparathyroidism type 1B; O, overgrowth; S, Silver-Russell syndrome; TS, Temple syndrome; TN, transient neonatal diabetes mellitus; W, Prader-Willi syndrome; SG, small for gestational age; N, neurodevelopmental delay and/or intellectual developmental disorder; A, assisted reproductive technology; T, monozygotic monochorionic diamniotic twins; V, variants of uncertain significance; L, likely pathogenic; DMR, differential methylated region; Chr, chromosome; MML, median methylation level of CpG sites in the DMR; SD, standard deviation; mean, mean MML of 16 healthy controls
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Heatmap of <t>array-based</t> <t>methylation</t> analysis using analysis method 1 . The heatmap indicates 56 aberrant <t>DMRs</t> out of 78 examined DMRs. Each row represents a DMR; each column represents a patient. Germline DMRs are shown on a gray background, secondary DMRs on a light green background, and unclassifiable DMRs on a white background. Methylation disturbances of DMRs are classified into seven categories based on the degree. B, Beckwith-Wiedemann syndrome; P, pseudohypoparathyroidism type 1B; O, overgrowth; S, Silver-Russell syndrome; TS, Temple syndrome; TN, transient neonatal diabetes mellitus; W, Prader-Willi syndrome; SG, small for gestational age; N, neurodevelopmental delay and/or intellectual developmental disorder; A, assisted reproductive technology; T, monozygotic monochorionic diamniotic twins; V, variants of uncertain significance; L, likely pathogenic; DMR, differential methylated region; Chr, chromosome; MML, median methylation level of CpG sites in the DMR; SD, standard deviation; mean, mean MML of 16 healthy controls
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Heatmap of <t>array-based</t> <t>methylation</t> analysis using analysis method 1 . The heatmap indicates 56 aberrant <t>DMRs</t> out of 78 examined DMRs. Each row represents a DMR; each column represents a patient. Germline DMRs are shown on a gray background, secondary DMRs on a light green background, and unclassifiable DMRs on a white background. Methylation disturbances of DMRs are classified into seven categories based on the degree. B, Beckwith-Wiedemann syndrome; P, pseudohypoparathyroidism type 1B; O, overgrowth; S, Silver-Russell syndrome; TS, Temple syndrome; TN, transient neonatal diabetes mellitus; W, Prader-Willi syndrome; SG, small for gestational age; N, neurodevelopmental delay and/or intellectual developmental disorder; A, assisted reproductive technology; T, monozygotic monochorionic diamniotic twins; V, variants of uncertain significance; L, likely pathogenic; DMR, differential methylated region; Chr, chromosome; MML, median methylation level of CpG sites in the DMR; SD, standard deviation; mean, mean MML of 16 healthy controls
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Heatmap of <t>array-based</t> <t>methylation</t> analysis using analysis method 1 . The heatmap indicates 56 aberrant <t>DMRs</t> out of 78 examined DMRs. Each row represents a DMR; each column represents a patient. Germline DMRs are shown on a gray background, secondary DMRs on a light green background, and unclassifiable DMRs on a white background. Methylation disturbances of DMRs are classified into seven categories based on the degree. B, Beckwith-Wiedemann syndrome; P, pseudohypoparathyroidism type 1B; O, overgrowth; S, Silver-Russell syndrome; TS, Temple syndrome; TN, transient neonatal diabetes mellitus; W, Prader-Willi syndrome; SG, small for gestational age; N, neurodevelopmental delay and/or intellectual developmental disorder; A, assisted reproductive technology; T, monozygotic monochorionic diamniotic twins; V, variants of uncertain significance; L, likely pathogenic; DMR, differential methylated region; Chr, chromosome; MML, median methylation level of CpG sites in the DMR; SD, standard deviation; mean, mean MML of 16 healthy controls
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Heatmap of array-based methylation analysis using analysis method 1 . The heatmap indicates 56 aberrant DMRs out of 78 examined DMRs. Each row represents a DMR; each column represents a patient. Germline DMRs are shown on a gray background, secondary DMRs on a light green background, and unclassifiable DMRs on a white background. Methylation disturbances of DMRs are classified into seven categories based on the degree. B, Beckwith-Wiedemann syndrome; P, pseudohypoparathyroidism type 1B; O, overgrowth; S, Silver-Russell syndrome; TS, Temple syndrome; TN, transient neonatal diabetes mellitus; W, Prader-Willi syndrome; SG, small for gestational age; N, neurodevelopmental delay and/or intellectual developmental disorder; A, assisted reproductive technology; T, monozygotic monochorionic diamniotic twins; V, variants of uncertain significance; L, likely pathogenic; DMR, differential methylated region; Chr, chromosome; MML, median methylation level of CpG sites in the DMR; SD, standard deviation; mean, mean MML of 16 healthy controls

Journal: Clinical Epigenetics

Article Title: Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance

doi: 10.1186/s13148-024-01744-5

Figure Lengend Snippet: Heatmap of array-based methylation analysis using analysis method 1 . The heatmap indicates 56 aberrant DMRs out of 78 examined DMRs. Each row represents a DMR; each column represents a patient. Germline DMRs are shown on a gray background, secondary DMRs on a light green background, and unclassifiable DMRs on a white background. Methylation disturbances of DMRs are classified into seven categories based on the degree. B, Beckwith-Wiedemann syndrome; P, pseudohypoparathyroidism type 1B; O, overgrowth; S, Silver-Russell syndrome; TS, Temple syndrome; TN, transient neonatal diabetes mellitus; W, Prader-Willi syndrome; SG, small for gestational age; N, neurodevelopmental delay and/or intellectual developmental disorder; A, assisted reproductive technology; T, monozygotic monochorionic diamniotic twins; V, variants of uncertain significance; L, likely pathogenic; DMR, differential methylated region; Chr, chromosome; MML, median methylation level of CpG sites in the DMR; SD, standard deviation; mean, mean MML of 16 healthy controls

Article Snippet: Consequently, we identified MLID in 29 patients with epimutation confirmed by methylation analysis for multiple ID-associated DMRs using pyrosequencing and/or methylation-specific multiple ligation-dependent probe amplification.

Techniques: Methylation, Standard Deviation