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Fig. 5 | Clinical Epigenetics

Fig. 5

From: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Fig. 5

Variable clinical features of SRS and BWS patients with low mosaic methylation levels or upd. a Face and full body of SRS-4 at age 8 years, SRS-5 at 2.5 years, and SRS-6 at 6 years of age. No overt facial dysmorphisms are visible in SRS-4; frontal bossing is marked in SRS-5, while SRS-6 shows only hemihypoplasia of the left lower limb. b Frontal face of BWS-1 at 5.4 years of age, showing mild but typical features, BWS-6 at 2 years and 8 months, showing no facial dysmorphisms and only pronounced hemihyperplasia of the lower right limb, BWS-16 at 9 years and BWS-17 at 6 years with visible hemihyperplasia of lower left and right limb, respectively

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Clinical Epigenetics

ISSN: 1868-7083

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