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Fig. 1 | Molecular Cytogenetics

Fig. 1

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

Fig. 1

Prenatal ultrasound images at 34 weeks of gestation, CMA and MS-MLPA results in patient 1. a 2D and 3D prenatal ultrasound examinations at 34 weeks demonstrated macroglossia. b Nephromegaly at 34 weeks prenatal ultrasound image with left kidney length of 7.89 × 3.39 × 3.67 cm, right kidney length of 6.86 × 3.59 × 3.55 cm. c Hepatomegaly at 34 weeks prenatal ultrasound image with length of 5.46 × 8.18 × 5.28 cm. d The CMA chromosome view (up) and gene view (bottom) reveal the breakpoint location and an 896Kb duplication at 11p15.5 (arr[GRCh37]11p15.5(1,632,167–2,527,910)×3). e 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). f MS-MLPA indicates methylation index of 0.76 at IC1 and methylation index of 0.61 at IC2 (bottom) in comparison with normal control methylation index of 0.65 at IC1 and 0.62 at IC2 (upper)

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Molecular Cytogenetics

ISSN: 1755-8166