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Methods 20 SRS cases diagnosed in Beijing Children’s Hospital from 2006 to 2011 were studied retrospectively for clinical manifestations, physical signs, laboratory examinations and respond of GH treatment. We compared with 3 different diagnostic criteria and used the methylationspecific multiplex ligation dependent probe amplification (MS-MLPA) method to detect the chromosome 11p15 imprinting defects in 16 patients of them, meanwhile take 10 normal control.

The clinical and molecular genetic study of 20 Silver Russell Syndrome cases