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Abstract
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.
Highlights
To analyze the genetic pathogenesis and improve the accuracy of the diagnosis of the disease, this study reported the clinical features of 20 patients with Silver Russell Syndrome (SRS) in the Beijing Children’s Hospital and detected the chromosome 11p15 imprinting defects in 16 patients of them
The clinical characteristics with the frequencies accounted for over 80% included small for gestation age(SGA), postnatal growth retardation, craniofacial dysmorphism, asymmetry and super thin of whole body, extremely limbs, fifth finger clinodactyly, BMI
In the 16 patients, 6 patients were found hypomethylation in chromosome 11p15 ICR1, the other one with chromosome 11p15 ICR1 hypomethylation and ICR2 hypermethylation may be the result of the maternal chromosome 11p15 uniparental disomy
Summary
To analyze the genetic pathogenesis and improve the accuracy of the diagnosis of the disease, this study reported the clinical features of 20 patients with Silver Russell Syndrome (SRS) in the Beijing Children’s Hospital and detected the chromosome 11p15 imprinting defects in 16 patients of them
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