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We report here the unusual association of Silver-Russell syndrome (SRS) and cerebellar dysplasia with trisomy 7 mosaicism and maternal uniparental disomy of chromosome 7 [UPD(7)m].

Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum