Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome

Abstract excerpt

An 11-year-old girl with de novo r(15) (p12q26.3) with a clinical diagnosis of Silver-Russell syndrome (SRS) is presented. She had prenatal and postnatal growth deficiency with a severe short stature, peculiar facies characterized by a triangular face, a pinched nose with anteverted nostrils and down-turned corners of the mouth, bilateral clinodactyly of the fifth fingers, café-au-lait nevi, mental retardation,...

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