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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

Fig. 2

Appearance at 2 months and 32 months of age, aCGH and MS-MLPA results in patient 2. a Macroglossia was noted at 2 months of age. b Appearance at 32 months showed reduced macroglossia with age. c The aCGH result shows a 228.8Kb deletion at 11p15.5 and a 2.5 Mb duplication at 11p15.5–15.4 (arr[GRCh36] 11p15.5(208,165–436,954)×1,11p15.5p15.4(497,819–2,996,618)×3). d MS-MLPA shows a peak height ratio value of 1.5 (three copies) at 11p15 (bottom) in comparison with a ratio value of 1 (two copies) from a normal control (upper). e MS-MLPA indicates IC1 methylation index of 0.75 and IC2 methylation index of 0.42 (bottom) in comparison of normal control methylation index of 0.58 at IC1 and 0.56 at IC2 (upper)

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Molecular Cytogenetics

ISSN: 1755-8166